ClinVar for Gene (Select 9262) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323284	NM_004226.4(STK17B):c.104C>A (p.Thr35Lys)	STK17B (T35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323283	NM_004226.4(STK17B):c.968A>G (p.Asp323Gly)	STK17B (D323G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171292	NM_004226.4(STK17B):c.992A>G (p.Asn331Ser)	STK17B (N331S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171291	NM_004226.4(STK17B):c.1016A>T (p.Asp339Val)	STK17B (D339V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2558231	NM_004226.4(STK17B):c.387G>C (p.Met129Ile)	STK17B (M129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507673	NM_004226.4(STK17B):c.844C>T (p.Pro282Ser)	STK17B (P282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489246	NM_004226.4(STK17B):c.375G>T (p.Glu125Asp)	STK17B (E125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399812	NM_004226.4(STK17B):c.406A>G (p.Ile136Val)	STK17B (I136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372274	NM_004226.4(STK17B):c.241A>G (p.Ile81Val)	STK17B (I81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358811	NM_004226.4(STK17B):c.1028T>A (p.Ile343Asn)	STK17B (I343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345483	NM_004226.4(STK17B):c.1009A>G (p.Arg337Gly)	STK17B (R337G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305806	NM_004226.4(STK17B):c.1069G>A (p.Asp357Asn)	STK17B (D357N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295219	NM_004226.4(STK17B):c.989G>A (p.Cys330Tyr)	STK17B (C330Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 689171	GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1	ANKRD44, BOLL +17 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	GPathogenic
Select item 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562645	GRCh37/hg19 2q32.3-33.1(chr2:195883643-197504800)x1	CCDC150, DNAH7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394652	GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1	ANKRD44, AOX1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253668	GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1	C2orf66, BOLL +21 more	Copy number loss	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 45