ClinVar for Gene (Select 285172) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285122	NM_001321623.1(HYCC2):c.1319C>T (p.Ala440Val)	HYCC2, LOC105373835 (A440V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285121	NM_001321623.1(HYCC2):c.1238T>C (p.Leu413Pro)	HYCC2, LOC105373835 (L413P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107720	NM_001321623.1(HYCC2):c.98G>A (p.Arg33Gln)	HYCC2 (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107719	NM_001321623.1(HYCC2):c.971G>A (p.Arg324His)	HYCC2, LOC105373835 (R242H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107718	NM_001321623.1(HYCC2):c.560G>A (p.Cys187Tyr)	HYCC2, LOC105373835 (C105Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107717	NM_001321623.1(HYCC2):c.557T>A (p.Leu186Gln)	HYCC2, LOC105373835 (L104Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107716	NM_001321623.1(HYCC2):c.437C>T (p.Ala146Val)	HYCC2, LOC105373835 (A64V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107715	NM_001321623.1(HYCC2):c.39A>T (p.Leu13Phe)	HYCC2 (L13F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107714	NM_001321623.1(HYCC2):c.383C>T (p.Pro128Leu)	HYCC2, LOC105373835 (P46L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107713	NM_001321623.1(HYCC2):c.340G>T (p.Ala114Ser)	HYCC2, LOC105373835 (A114S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107712	NM_001321623.1(HYCC2):c.302T>C (p.Ile101Thr)	HYCC2, LOC105373835 (I19T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3107711	NM_001321623.1(HYCC2):c.209G>A (p.Arg70Gln)	HYCC2, LOC105373835 (R70Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3107710	NM_001321623.1(HYCC2):c.191A>G (p.Tyr64Cys)	HYCC2, LOC105373835 (Y64C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3107709	NM_001321623.1(HYCC2):c.151G>A (p.Glu51Lys)	HYCC2 (E51K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107707	NM_001321623.1(HYCC2):c.1672G>A (p.Glu558Lys)	HYCC2, LOC105373835 (E502K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107706	NM_001321623.1(HYCC2):c.1625G>A (p.Arg542Gln)	HYCC2, LOC105373835 (R460Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107705	NM_001321623.1(HYCC2):c.1535C>T (p.Ser512Leu)	HYCC2, LOC105373835 (S512L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107704	NM_001321623.1(HYCC2):c.1471C>G (p.Gln491Glu)	HYCC2, LOC105373835 (Q353E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107703	NM_001321623.1(HYCC2):c.1441A>G (p.Met481Val)	HYCC2, LOC105373835 (M425V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107702	NM_001321623.1(HYCC2):c.1381C>T (p.Arg461Cys)	HYCC2, LOC105373835 (R379C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107701	NM_001321623.1(HYCC2):c.1372T>G (p.Ser458Ala)	HYCC2, LOC105373835 (S320A +3 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 2684930	GRCh37/hg19 2q33.1(chr2:201783007-201918855)x1	HYCC2, ORC2	Copy number loss	not provided	GUncertain significance
Select item 2621570	NM_001321623.1(HYCC2):c.1361G>C (p.Ser454Thr)	HYCC2, LOC105373835 (S316T +3 more)	Single nucleotide variant (missense variant)	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 2493082	NM_001321623.1(HYCC2):c.1385A>G (p.Lys462Arg)	HYCC2, LOC105373835 (K406R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490063	NM_001321623.1(HYCC2):c.166G>C (p.Val56Leu)	HYCC2, LOC105373835 (V56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488093	NM_001321623.1(HYCC2):c.650G>A (p.Arg217Gln)	HYCC2, LOC105373835 (R217Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486399	NM_001321623.1(HYCC2):c.713T>C (p.Val238Ala)	HYCC2, LOC105373835 (V156A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483028	NM_001321623.1(HYCC2):c.871C>G (p.Pro291Ala)	HYCC2, LOC105373835 (P209A +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 1704349	GRCh37/hg19 2q33.1(chr2:201838259-202711243)x3	ALS2, C2CD6 +11 more	Copy number gain	CYSTIC HYGROMA, VSD	GUncertain significance
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 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	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 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 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 562557	GRCh37/hg19 2q33.1(chr2:201762531-202028909)x3	NIF3L1, NDUFB3 +3 more	Copy number gain	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 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 156813	NC_000002.12:g.200978777_201106301dup	HYCC2, LOC105373835 +3 more	Duplication	Normal pregnancy	Gnot provided
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 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	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 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
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 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 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: 63