6389[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2843

<< First< Prev

Page of 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 155265	GRCh38/hg38 5p15.33-15.32(chr5:22149-5102586)x1	AHRR, BRD9 +212 more	Copy number loss	See cases	GPathogenic
Select item 154955	GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1	LOC129993633, LOC129993634 +532 more	Copy number loss	See cases	GPathogenic
Select item 154951	GRCh38/hg38 5p15.33-15.32(chr5:22149-5059896)x1	AHRR, BRD9 +211 more	Copy number loss	See cases	GPathogenic
Select item 154867	GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1	LOC129993624, LOC129993625 +559 more	Copy number loss	See cases	GPathogenic
Select item 154579	GRCh38/hg38 5p15.33(chr5:22149-1659135)x3	LOC132089296, LOC132089297 +139 more	Copy number gain	See cases	GPathogenic
Select item 154578	GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1	ADAMTS16, ADAMTS16-DT +553 more	Copy number loss	See cases	GPathogenic
Select item 152721	GRCh38/hg38 5p15.33-15.32(chr5:22149-4833626)x1	AHRR, BRD9 +202 more	Copy number loss	See cases	GPathogenic
Select item 152692	GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1	LOC129993692, LOC129993693 +561 more	Copy number loss	See cases	GPathogenic
Select item 152423	GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1	ADAMTS16, ADAMTS16-DT +478 more	Copy number loss	See cases	GPathogenic
Select item 152421	GRCh38/hg38 5p15.33(chr5:22149-356107)x1	AHRR, CCDC127 +24 more	Copy number loss	See cases	GLikely benign
Select item 151630	GRCh38/hg38 5p15.33(chr5:22149-658446)x1	LOC132089252, LOC132089253 +75 more	Copy number loss	See cases	GLikely benign
Select item 151165	GRCh38/hg38 5p15.33(chr5:22149-3619159)	AHRR, BRD9 +196 more	Copy number gain	See cases	GUncertain significance
Select item 150451	GRCh38/hg38 5p15.33(chr5:22149-2323943)x3	AHRR, BRD9 +172 more	Copy number gain	See cases	GPathogenic
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 149159	GRCh38/hg38 5p15.33-15.32(chr5:22149-6060102)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 149108	GRCh38/hg38 5p15.33(chr5:22149-946680)x1	AHRR, BRD9 +99 more	Copy number loss	See cases	GUncertain significance
Select item 149057	GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1	ADAMTS16, ADAMTS16-DT +537 more	Copy number loss	See cases	GPathogenic
Select item 149039	GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1	LOC132090721, LOC132090722 +556 more	Copy number loss	See cases	GPathogenic
Select item 148877	GRCh38/hg38 5p15.33(chr5:22149-4260151)x1	AHRR, BRD9 +199 more	Copy number loss	See cases	GPathogenic
Select item 148850	GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1	ADAMTS16, ADAMTS16-DT +384 more	Copy number loss	See cases	GPathogenic
Select item 148819	GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1	LOC126807286, LOC126807287 +384 more	Copy number loss	See cases	GPathogenic
Select item 148740	GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3	ADAMTS16, ADAMTS16-DT +542 more	Copy number gain	See cases	GPathogenic
Select item 148612	GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3	LOC108254683, LOC110120635 +559 more	Copy number gain	See cases	GPathogenic
Select item 148081	GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1	ADAMTS16, ADAMTS16-DT +561 more	Copy number loss	See cases	GPathogenic
Select item 147970	GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1	ADAMTS16, ADAMTS16-DT +559 more	Copy number loss	See cases	GPathogenic
Select item 147809	GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3	LOC112997550, LOC112997551 +462 more	Copy number gain	See cases	GPathogenic
Select item 147750	GRCh38/hg38 5p15.33(chr5:22149-1429599)x1	AHRR, BRD9 +127 more	Copy number loss	See cases	GPathogenic
Select item 147356	GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1	ADAMTS16, ADAMTS16-DT +473 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 145514	GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1	LOC126807328, LOC126807329 +559 more	Copy number loss	See cases	GPathogenic
Select item 144883	GRCh38/hg38 5p15.33(chr5:22149-221160)x1	CCDC127, LOC121725197 +9 more	Copy number loss	See cases	GLikely benign
Select item 144314	GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1	ADAMTS16, ADAMTS16-DT +388 more	Copy number loss	See cases	GPathogenic
Select item 144306	GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3	ADAMTS16, ADAMTS16-DT +642 more	Copy number gain	See cases	GPathogenic
Select item 144286	GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1	LOC129993561, LOC129993562 +552 more	Copy number loss	See cases	GPathogenic
Select item 59573	GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1	ADAMTS16, ADAMTS16-DT +318 more	Copy number loss	See cases	GPathogenic
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59556	GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1	LOC129993559, LOC129993560 +384 more	Copy number loss	See cases	GPathogenic
Select item 59555	GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1	ADAMTS16, ADAMTS16-DT +538 more	Copy number loss	See cases	GPathogenic
Select item 59554	GRCh38/hg38 5p15.33-15.31(chr5:22149-7213275)x1	ADAMTS16, ADAMTS16-DT +272 more	Copy number loss	See cases	GPathogenic
Select item 57221	GRCh38/hg38 5p15.33(chr5:22149-3404244)x1	AHRR, BRD9 +190 more	Copy number loss	See cases	GPathogenic
Select item 57057	GRCh38/hg38 5p15.33(chr5:22149-1826256)x1	AHRR, BRD9 +150 more	Copy number loss	See cases	GPathogenic
Select item 59576	GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1	LOC129993643, LOC129993644 +521 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 161034	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 146618	GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1	ADAMTS16, ADAMTS16-DT +574 more	Copy number loss	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 57400	GRCh38/hg38 5p15.33(chr5:49978-4014647)x1	AHRR, BRD9 +196 more	Copy number loss	See cases	GPathogenic
Select item 32815	GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1	ADAMTS16, ADAMTS16-DT +461 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 154630	GRCh38/hg38 5p15.33-15.32(chr5:95128-5834551)x1	ADAMTS16, ADAMTS16-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 154011	GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1	ADAMTS16, ADAMTS16-DT +443 more	Copy number loss	See cases	GPathogenic
Select item 153600	GRCh38/hg38 5p15.33-15.31(chr5:113461-8875933)x1	ADAMTS16, ADAMTS16-DT +300 more	Copy number loss	See cases	GPathogenic
Select item 153553	GRCh38/hg38 5p15.33-15.32(chr5:113461-6243977)x1	ADAMTS16, ADAMTS16-DT +231 more	Copy number loss	See cases	GPathogenic
Select item 153462	GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1	ADAMTS12, ADAMTS16 +657 more	Copy number loss	See cases	GPathogenic
Select item 57402	GRCh38/hg38 5p15.33(chr5:138272-710438)x3	AHRR, CCDC127 +88 more	Copy number gain	See cases	GUncertain significance
Select item 145915	GRCh38/hg38 5p15.33(chr5:151622-234045)x3	CCDC127, LOC121725197 +8 more	Copy number gain	See cases	GLikely benign
Select item 353197	NM_004168.3(SDHA):c.-115T>C	SDHA	Single nucleotide variant	Leigh syndrome +2 more	GLikely benign
Select item 353198	NM_004168.3(SDHA):c.-84dup	SDHA	Duplication	Leigh syndrome +2 more	GLikely benign
Select item 353199	NM_004168.3(SDHA):c.-63G>A	SDHA	Single nucleotide variant	Leigh syndrome +2 more	GUncertain significance
Select item 2673969	NM_004168.4(SDHA):c.-28_-20dup	SDHA	Duplication (5 prime UTR variant)	Paragangliomas 5	GBenign
Select item 371942	NM_004168.4(SDHA):c.-7A>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Paragangliomas 5 +6 more	GConflicting classifications of pathogenicity
Select item 3223751	NM_004168.4(SDHA):c.-5C>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486398	NM_004168.4(SDHA):c.-4dup	SDHA	Duplication (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 371867	NM_004168.4(SDHA):c.-5C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1744685	NM_004168.4(SDHA):c.-4A>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1744677	NM_004168.4(SDHA):c.-4A>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 259243	NM_004168.4(SDHA):c.-4A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 1736905	NM_004168.4(SDHA):c.-3G>A	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 824486	NM_004168.4(SDHA):c.-3G>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486369	NM_004168.4(SDHA):c.-3G>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1798646	NM_004168.4(SDHA):c.-2A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 486359	NM_004168.4(SDHA):c.-2A>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1784203	NM_004168.4(SDHA):c.-1del	SDHA	Deletion (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1784187	NM_004168.4(SDHA):c.-1C>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 353200	NM_004168.4(SDHA):c.-1C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2132819	NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)	SDHA	Duplication (inframe_insertion +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 426781	NM_004168.4(SDHA):c.1del (p.Met1fs)	SDHA (M1fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 371794	NM_004168.4(SDHA):c.1A>T (p.Met1Leu)	SDHA (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 239661	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA (M1V)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +3 more	GPathogenic/Likely pathogenic
Select item 8744	NM_004168.4(SDHA):c.1A>C (p.Met1Leu)	SDHA (M1L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 582115	NM_004168.4(SDHA):c.2T>A (p.Met1Lys)	SDHA (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 422382	NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	SDHA (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 412398	NM_004168.4(SDHA):c.2T>C (p.Met1Thr)	SDHA (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 2562379	NM_004168.4(SDHA):c.3G>A (p.Met1Ile)	SDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +2 more	GPathogenic
Select item 1455102	NM_004168.4(SDHA):c.3G>C (p.Met1Ile)	SDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +1 more	GPathogenic
Select item 1408872	NM_004168.4(SDHA):c.3G>T (p.Met1Ile)	SDHA (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +2 more	GPathogenic
Select item 1750996	NM_004168.4(SDHA):c.5dup (p.Val4fs)	SDHA (V4fs)	Duplication (frameshift variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic
Select item 1419015	NM_004168.4(SDHA):c.4T>C (p.Ser2Pro)	SDHA (S2P)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1363080	NM_004168.4(SDHA):c.4T>G (p.Ser2Ala)	SDHA (S2A)	Single nucleotide variant (missense variant)	Paragangliomas 5 +2 more	GUncertain significance
Select item 644096	NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)	SDHA (S2*)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +1 more	GPathogenic
Select item 412386	NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)	SDHA (S2L)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3223709	NM_004168.4(SDHA):c.10del (p.Val4fs)	SDHA (V4fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 826765	NM_004168.4(SDHA):c.6G>T (p.Ser2=)	SDHA	Single nucleotide variant (synonymous variant)	Paragangliomas 5 +2 more	GLikely benign

<< First< Prev

Page of 29