ClinVar for Gene (Select 64928) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2792115	NM_032111.4(MRPL14):c.-19+1273A>C	MRPL14, POLR1C (Y8S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2786327	NM_032111.4(MRPL14):c.-19+1339G>A	MRPL14, POLR1C (C30Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2477593	NM_032111.4(MRPL14):c.80G>A (p.Gly27Glu)	MRPL14, POLR1C (G38E +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2471027	NM_032111.4(MRPL14):c.109C>T (p.Arg37Trp)	MRPL14, POLR1C (R37W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2409186	NM_032111.4(MRPL14):c.397G>A (p.Glu133Lys)	MRPL14, POLR1C (E186K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400954	NM_032111.4(MRPL14):c.389G>A (p.Arg130Gln)	MRPL14, POLR1C (R96Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354125	NM_032111.4(MRPL14):c.422C>T (p.Ala141Val)	MRPL14, POLR1C (A107V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293320	NM_032111.4(MRPL14):c.323T>C (p.Ile108Thr)	MRPL14, POLR1C (I161T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264927	NM_032111.4(MRPL14):c.426G>C (p.Gln142His)	MRPL14, POLR1C (Q142H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246137	NM_032111.4(MRPL14):c.418A>G (p.Ile140Val)	MRPL14, POLR1C (I106V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232753	NM_032111.4(MRPL14):c.386A>T (p.Lys129Met)	MRPL14, POLR1C (K140M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 152076	GRCh38/hg38 6p21.1(chr6:43656888-44382430)x3	AARS2, CAPN11 +85 more	Copy number gain	See cases	GLikely benign
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 23