GASK1B-AS1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 152866	GRCh38/hg38 4q32.1(chr4:157629491-158280863)x1	GASK1B, GASK1B-AS1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 3280835	NM_001128424.2(GASK1B):c.613A>G (p.Ile205Val)	GASK1B, GASK1B-AS1 (I205V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098736	NM_001128424.2(GASK1B):c.569C>T (p.Ala190Val)	GASK1B, GASK1B-AS1 (A190V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098735	NM_001128424.2(GASK1B):c.565C>G (p.Arg189Gly)	GASK1B, GASK1B-AS1 (R189G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591415	NM_001128424.2(GASK1B):c.557C>T (p.Pro186Leu)	GASK1B, GASK1B-AS1 (P186L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476458	NM_001128424.2(GASK1B):c.524T>C (p.Ile175Thr)	GASK1B, GASK1B-AS1 (I175T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568196	NM_001128424.2(GASK1B):c.504G>C (p.Gln168His)	GASK1B, GASK1B-AS1 (Q168H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529869	NM_001128424.2(GASK1B):c.445T>C (p.Ser149Pro)	GASK1B, GASK1B-AS1 (S149P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098734	NM_001128424.2(GASK1B):c.385C>A (p.Arg129Ser)	GASK1B, GASK1B-AS1 (R129S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098733	NM_001128424.2(GASK1B):c.340A>G (p.Lys114Glu)	GASK1B, GASK1B-AS1 (K114E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098732	NM_001128424.2(GASK1B):c.335G>T (p.Arg112Leu)	GASK1B, GASK1B-AS1 (R112L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098731	NM_001128424.2(GASK1B):c.310C>G (p.Pro104Ala)	GASK1B, GASK1B-AS1 (P104A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098730	NM_001128424.2(GASK1B):c.302C>T (p.Thr101Ile)	GASK1B, GASK1B-AS1 (T101I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280829	NM_001128424.2(GASK1B):c.287A>G (p.Gln96Arg)	GASK1B, GASK1B-AS1 (Q96R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098729	NM_001128424.2(GASK1B):c.271G>A (p.Ala91Thr)	GASK1B, GASK1B-AS1 (A91T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280832	NM_001128424.2(GASK1B):c.251T>C (p.Ile84Thr)	GASK1B, GASK1B-AS1 (I84T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280834	NM_001128424.2(GASK1B):c.206G>T (p.Gly69Val)	GASK1B, GASK1B-AS1 (G69V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560969	NM_001128424.2(GASK1B):c.194C>A (p.Ala65Glu)	GASK1B, GASK1B-AS1 (A65E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098737	NM_001128424.2(GASK1B):c.62C>T (p.Pro21Leu)	GASK1B, GASK1B-AS1 +1 more (P21L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2532379	NM_001128424.2(GASK1B):c.37T>A (p.Trp13Arg)	GASK1B, GASK1B-AS1 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2540122	NM_001128424.2(GASK1B):c.31A>G (p.Ile11Val)	GASK1B, GASK1B-AS1 +1 more (I11V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 33