ClinVar for Gene (Select 55759) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332711	NM_018256.4(WDR12):c.1177G>C (p.Asp393His)	WDR12 (D393H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332710	NM_018256.4(WDR12):c.65T>G (p.Phe22Cys)	WDR12 (F22C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3189845	NM_018256.4(WDR12):c.944G>C (p.Gly315Ala)	WDR12 (G177A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189843	NM_018256.4(WDR12):c.694A>G (p.Asn232Asp)	WDR12 (N232D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189842	NM_018256.4(WDR12):c.620G>C (p.Gly207Ala)	WDR12 (G207A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189841	NM_018256.4(WDR12):c.406A>G (p.Ile136Val)	WDR12 (I136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189840	NM_018256.4(WDR12):c.349G>A (p.Gly117Ser)	WDR12 (G117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189839	NM_018256.4(WDR12):c.1055C>T (p.Pro352Leu)	WDR12 (P214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189838	NM_018256.4(WDR12):c.1004C>T (p.Ser335Leu)	WDR12 (S335L +1 more)	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 2684941	GRCh37/hg19 2q33.2(chr2:203662536-203857352)x1	CARF, ICA1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 2615215	NM_018256.4(WDR12):c.574G>A (p.Val192Ile)	WDR12 (V192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598667	NM_018256.4(WDR12):c.388G>A (p.Gly130Arg)	WDR12 (G130R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2550393	NM_018256.4(WDR12):c.430A>G (p.Lys144Glu)	WDR12 (K144E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538083	NM_018256.4(WDR12):c.28A>G (p.Thr10Ala)	WDR12 (T10A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2526271	NM_018256.4(WDR12):c.421G>A (p.Asp141Asn)	WDR12 (D141N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488082	NM_018256.4(WDR12):c.668A>T (p.Glu223Val)	WDR12 (E85V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484795	NM_018256.4(WDR12):c.842G>A (p.Arg281Lys)	WDR12 (R281K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482401	NM_018256.4(WDR12):c.914A>G (p.Tyr305Cys)	WDR12 (Y167C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 2405741	NM_018256.4(WDR12):c.100A>G (p.Ser34Gly)	WDR12 (S34G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2392148	NM_018256.4(WDR12):c.422A>G (p.Asp141Gly)	WDR12 (D141G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353440	NM_018256.4(WDR12):c.49G>A (p.Val17Ile)	WDR12 (V17I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2309826	NM_018256.4(WDR12):c.1190C>G (p.Thr397Arg)	WDR12 (T397R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296621	NM_018256.4(WDR12):c.1227G>T (p.Leu409Phe)	WDR12 (L409F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254801	NM_018256.4(WDR12):c.863G>A (p.Gly288Asp)	WDR12 (G288D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240740	NM_018256.4(WDR12):c.932G>A (p.Arg311His)	WDR12 (R311H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237181	NM_018256.4(WDR12):c.370C>T (p.Arg124Trp)	WDR12 (R124W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208619	NM_018256.4(WDR12):c.1129G>C (p.Ala377Pro)	WDR12 (A239P +1 more)	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 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 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ABI2, ACADL +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	ABI2, ALS2 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	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 814358	GRCh37/hg19 2q33.2(chr2:203753937-203816438)x1	WDR12, CARF	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813271	Single allele	ICA1L, NBEAL1 +4 more	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
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 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 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 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 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 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	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: 57