4285[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 1684647	NC_000013.11:g.22924987_24337204del	C1QTNF9, C1QTNF9B +57 more	Deletion	See cases	GUncertain significance
Select item 57578	GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3	C1QTNF9B, LINC00327 +55 more	Copy number gain	See cases	GUncertain significance
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 57520	GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1	C1QTNF9, C1QTNF9B +54 more	Copy number loss	See cases	GUncertain significance
Select item 33369	GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 144165	GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1	LINC00327, LINC00362 +33 more	Copy number loss	See cases	GPathogenic
Select item 57252	GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1	C1QTNF9B, LOC121466729 +22 more	Copy number loss	See cases	GUncertain significance
Select item 149630	GRCh38/hg38 13q12.12(chr13:23686720-23915028)x1	C1QTNF9B, LOC130009379 +10 more	Copy number loss	See cases	GLikely benign
Select item 2433750	NM_005932.4(MIPEP):c.2137G>A (p.Glu713Lys)	MIPEP (E713K)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GUncertain significance
Select item 2055689	NM_005932.4(MIPEP):c.2115C>G (p.Phe705Leu)	MIPEP (F705L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420118	NM_005932.4(MIPEP):c.2092G>A (p.Val698Ile)	MIPEP (V698I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 766134	NM_005932.4(MIPEP):c.2088C>T (p.Ala696=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 392943	NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp)	MIPEP (G682D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GUncertain significance
Select item 1941546	NM_005932.4(MIPEP):c.2044+15_2044+25del	MIPEP	Deletion (intron variant)	not provided	GLikely benign
Select item 3126691	NM_005932.4(MIPEP):c.1991G>A (p.Arg664His)	MIPEP (R664H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710180	NM_005932.4(MIPEP):c.1985G>A (p.Arg662His)	MIPEP (R662H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 813660	NM_005932.4(MIPEP):c.1984C>T (p.Arg662Cys)	MIPEP (R662C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 770419	NM_005932.4(MIPEP):c.1977C>T (p.Ala659=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3126690	NM_005932.4(MIPEP):c.1975G>T (p.Ala659Ser)	MIPEP (A659S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259605	NM_005932.4(MIPEP):c.1970+20A>C	MIPEP	Single nucleotide variant (intron variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GBenign
Select item 2025408	NM_005932.4(MIPEP):c.1970+8G>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 840481	NM_005932.4(MIPEP):c.1970+2T>A	MIPEP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2320872	NM_005932.4(MIPEP):c.1958A>T (p.Asp653Val)	MIPEP (D653V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757963	NM_005932.4(MIPEP):c.1924G>A (p.Ala642Thr)	MIPEP (A642T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3054196	NM_005932.4(MIPEP):c.1923C>G (p.Val641=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related disorder	GLikely benign
Select item 2138400	NM_005932.4(MIPEP):c.1881G>A (p.Gly627=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2180652	NM_005932.4(MIPEP):c.1880G>A (p.Gly627Glu)	MIPEP (G627E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2912137	NM_005932.4(MIPEP):c.1862G>A (p.Arg621Gln)	MIPEP (R621Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234957	NM_005932.4(MIPEP):c.1854G>A (p.Trp618Ter)	MIPEP (W618*)	Single nucleotide variant (nonsense)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 584455	Single allele	LOC130009384, LOC130009385 +1 more	Deletion	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	GLikely pathogenic
Select item 2504023	NM_005932.4(MIPEP):c.1848+2T>G	MIPEP	Single nucleotide variant (splice donor variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GLikely pathogenic
Select item 3058795	NM_005932.4(MIPEP):c.1833A>G (p.Pro611=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related disorder	GLikely benign
Select item 2183775	NM_005932.4(MIPEP):c.1826del (p.Gly609fs)	MIPEP (G609fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2357120	NM_005932.4(MIPEP):c.1823A>G (p.Tyr608Cys)	MIPEP (Y608C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784267	NM_005932.4(MIPEP):c.1804G>A (p.Glu602Lys)	MIPEP (E602K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 208631	NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter)	MIPEP (E602*)	Single nucleotide variant (nonsense)	Cardiomyopathy +2 more	GPathogenic
Select item 3015342	NM_005932.4(MIPEP):c.1788C>T (p.Thr596=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787407	NM_005932.4(MIPEP):c.1774C>T (p.Leu592=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1978825	NM_005932.4(MIPEP):c.1767G>A (p.Lys589=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208628	NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)	MIPEP (L582R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2173946	NM_005932.4(MIPEP):c.1735T>C (p.Tyr579His)	MIPEP (Y579H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 781832	NM_005932.4(MIPEP):c.1728+7A>G	MIPEP	Single nucleotide variant (intron variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GBenign/Likely benign
Select item 2223623	NM_005932.4(MIPEP):c.1728+5G>T	MIPEP	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 930152	NM_005932.4(MIPEP):c.1727A>C (p.Gln576Pro)	MIPEP (Q576P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564300	NM_005932.4(MIPEP):c.1718T>C (p.Met573Thr)	MIPEP (M573T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3126687	NM_005932.4(MIPEP):c.1709C>T (p.Ala570Val)	MIPEP (A570V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030039	NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr)	MIPEP (A570T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1442689	NM_005932.4(MIPEP):c.1700T>G (p.Val567Gly)	MIPEP (V567G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126686	NM_005932.4(MIPEP):c.1693A>G (p.Lys565Glu)	MIPEP (K565E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2973831	NM_005932.4(MIPEP):c.1689A>G (p.Glu563=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 587593	NM_005932.4(MIPEP):c.1679G>A (p.Arg560His)	MIPEP (R560H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 634482	NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr)	MIPEP (M557T)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +1 more	GConflicting classifications of pathogenicity
Select item 787408	NM_005932.4(MIPEP):c.1654-3A>G	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1245447	NM_005932.4(MIPEP):c.1654-66G>A	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274517	NM_005932.4(MIPEP):c.1653+101C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2617826	NM_005932.4(MIPEP):c.1639T>C (p.Tyr547His)	MIPEP (Y547H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1653420	NM_005932.4(MIPEP):c.1629T>C (p.Phe543=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545368	NM_005932.4(MIPEP):c.1612C>A (p.Arg538=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737402	NM_005932.4(MIPEP):c.1572G>A (p.Glu524=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2068132	NM_005932.4(MIPEP):c.1549A>C (p.Arg517=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762526	NM_005932.4(MIPEP):c.1545G>T (p.Gly515=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771463	NM_005932.4(MIPEP):c.1544-7G>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 739826	NM_005932.4(MIPEP):c.1544-7G>C	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1277553	NM_005932.4(MIPEP):c.1544-22dup	MIPEP	Duplication (intron variant)	not provided	GBenign
Select item 771464	NM_005932.4(MIPEP):c.1544-10C>T	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181798	NM_005932.4(MIPEP):c.1544-11del	MIPEP	Deletion (intron variant)	not provided	GBenign
Select item 3020335	NM_005932.4(MIPEP):c.1543+11A>G	MIPEP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2513406	NM_005932.4(MIPEP):c.1537G>A (p.Val513Ile)	MIPEP (V513I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208633	NM_005932.4(MIPEP):c.1534C>G (p.His512Asp)	MIPEP (H512D)	Single nucleotide variant (missense variant)	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1033048	NM_005932.4(MIPEP):c.1526G>A (p.Arg509His)	MIPEP (R509H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2126061	NM_005932.4(MIPEP):c.1522A>C (p.Thr508Pro)	MIPEP (T508P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3126685	NM_005932.4(MIPEP):c.1519C>T (p.Arg507Cys)	MIPEP (R507C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072112	NM_005932.4(MIPEP):c.1510A>G (p.Met504Val)	MIPEP (M504V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480190	NM_005932.4(MIPEP):c.1502T>C (p.Met501Thr)	MIPEP (M501T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321170	NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly)	MIPEP (S488G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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