ClinVar for Gene (Select 729085) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3280826	NM_001129908.3(GASK1A):c.1580C>T (p.Ser527Leu)	GASK1A (S527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280825	NM_001129908.3(GASK1A):c.875T>C (p.Val292Ala)	GASK1A (V292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280824	NM_001129908.3(GASK1A):c.1091G>A (p.Gly364Glu)	GASK1A (G364E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280823	NM_001129908.3(GASK1A):c.416G>A (p.Arg139Lys)	GASK1A (R139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280822	NM_001129908.3(GASK1A):c.725G>A (p.Cys242Tyr)	GASK1A (C242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280821	NM_001129908.3(GASK1A):c.267G>C (p.Leu89Phe)	GASK1A (L89F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280820	NM_001129908.3(GASK1A):c.29G>A (p.Arg10His)	GASK1A (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098716	NM_001129908.3(GASK1A):c.967C>A (p.Pro323Thr)	GASK1A (P323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098715	NM_001129908.3(GASK1A):c.80C>T (p.Ala27Val)	GASK1A (A27V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098714	NM_001129908.3(GASK1A):c.804G>C (p.Met268Ile)	GASK1A (M268I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098713	NM_001129908.3(GASK1A):c.802A>T (p.Met268Leu)	GASK1A (M268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098712	NM_001129908.3(GASK1A):c.769G>T (p.Ala257Ser)	GASK1A (A257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098711	NM_001129908.3(GASK1A):c.758C>G (p.Thr253Ser)	GASK1A (T253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098710	NM_001129908.3(GASK1A):c.695C>G (p.Ser232Cys)	GASK1A (S232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098709	NM_001129908.3(GASK1A):c.28C>T (p.Arg10Cys)	GASK1A (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098708	NM_001129908.3(GASK1A):c.212G>A (p.Arg71Gln)	GASK1A (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098707	NM_001129908.3(GASK1A):c.182G>A (p.Arg61Gln)	GASK1A (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098706	NM_001129908.3(GASK1A):c.181C>T (p.Arg61Trp)	GASK1A (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098705	NM_001129908.3(GASK1A):c.16C>T (p.Arg6Trp)	GASK1A (R6W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098704	NM_001129908.3(GASK1A):c.1618G>A (p.Gly540Arg)	GASK1A (G540R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098703	NM_001129908.3(GASK1A):c.1546G>A (p.Ala516Thr)	GASK1A (A516T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098702	NM_001129908.3(GASK1A):c.1534G>T (p.Val512Leu)	GASK1A (V512L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098701	NM_001129908.3(GASK1A):c.1465C>A (p.Leu489Ile)	GASK1A (L489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098700	NM_001129908.3(GASK1A):c.1382A>G (p.Asn461Ser)	GASK1A (N461S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098699	NM_001129908.3(GASK1A):c.1310G>A (p.Arg437His)	GASK1A (R437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098698	NM_001129908.3(GASK1A):c.1297G>A (p.Asp433Asn)	GASK1A (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098697	NM_001129908.3(GASK1A):c.1262G>A (p.Arg421His)	GASK1A (R421H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098696	NM_001129908.3(GASK1A):c.1235C>T (p.Pro412Leu)	GASK1A (P412L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098695	NM_001129908.3(GASK1A):c.118G>A (p.Ala40Thr)	GASK1A (A40T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098694	NM_001129908.3(GASK1A):c.1150G>A (p.Asp384Asn)	GASK1A (D384N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098693	NM_001129908.3(GASK1A):c.1072T>C (p.Tyr358His)	GASK1A (Y358H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098692	NM_001129908.3(GASK1A):c.1070C>T (p.Pro357Leu)	GASK1A (P357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098691	NM_001129908.3(GASK1A):c.1055A>G (p.His352Arg)	GASK1A (H352R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098690	NM_001129908.3(GASK1A):c.1049G>A (p.Arg350His)	GASK1A (R350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620964	NM_001129908.3(GASK1A):c.79G>A (p.Ala27Thr)	GASK1A (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516230	NM_001129908.3(GASK1A):c.1534G>A (p.Val512Met)	GASK1A (V512M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511473	NM_001129908.3(GASK1A):c.17G>A (p.Arg6Gln)	GASK1A (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457053	NM_001129908.3(GASK1A):c.40C>T (p.Arg14Trp)	GASK1A (R14W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527014	GRCh37/hg19 3p22.1(chr3:42984620-43656876)	ANO10, GASK1A +2 more	Copy number gain	not specified	GUncertain significance
Select item 1441558	NC_000003.11:g.(?_40924962)_(43760024_?)dup	ABHD5, ACKR2 +22 more	Duplication	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	GUncertain significance
Select item 789982	NM_001129908.3(GASK1A):c.616G>C (p.Ala206Pro)	GASK1A (A206P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253640	GRCh37/hg19 3p22.1-21.31(chr3:41104508-44636698)x1	HHATL, ZKSCAN7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 46