ICA1[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic
Select item 150899	GRCh38/hg38 7p21.3(chr7:7249455-10718595)x3	COL28A1, GLCCI1 +62 more	Copy number gain	See cases	GLikely benign
Select item 150871	GRCh38/hg38 7p21.3(chr7:7815001-8767755)x3	GLCCI1, GLCCI1-DT +26 more	Copy number gain	See cases	GLikely benign
Select item 2271648	NM_001136020.3(ICA1):c.1387G>A (p.Asp463Asn)	ICA1 (D463N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226526	NM_001136020.3(ICA1):c.1313T>C (p.Leu438Ser)	ICA1 (L363S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360231	NM_001136020.3(ICA1):c.1250C>T (p.Pro417Leu)	ICA1 (P395L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218077	NM_001136020.3(ICA1):c.1151C>T (p.Ser384Phe)	ICA1 (S310F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483080	NM_001136020.3(ICA1):c.1130G>T (p.Ser377Ile)	ICA1 (S302I +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538826	NM_001136020.3(ICA1):c.1073C>T (p.Pro358Leu)	ICA1 (P337L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412453	NM_001136020.3(ICA1):c.1069G>A (p.Gly357Arg)	ICA1 (G336R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107870	NM_001136020.3(ICA1):c.1064G>A (p.Cys355Tyr)	ICA1 (C281Y +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107869	NM_001136020.3(ICA1):c.1057G>C (p.Gly353Arg)	ICA1 (G353R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107868	NM_001136020.3(ICA1):c.1057G>A (p.Gly353Ser)	ICA1 (G353S +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333691	NM_001136020.3(ICA1):c.1039G>A (p.Asp347Asn)	ICA1 (D273N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597980	NM_001136020.3(ICA1):c.1015T>A (p.Ser339Thr)	ICA1 (S264T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107878	NM_001136020.3(ICA1):c.946A>G (p.Ser316Gly)	ICA1 (S315G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107877	NM_001136020.3(ICA1):c.941C>T (p.Ser314Phe)	ICA1 (S314F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283755	NM_001136020.3(ICA1):c.931C>T (p.Arg311Cys)	ICA1 (R237C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377212	NM_001136020.3(ICA1):c.900C>A (p.Ser300Arg)	ICA1, LOC129997990 (S225R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458510	NM_001136020.3(ICA1):c.896C>T (p.Pro299Leu)	ICA1, LOC129997990 (P224L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598689	NM_001136020.3(ICA1):c.895C>T (p.Pro299Ser)	ICA1, LOC129997990 (P224S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242063	NM_001136020.3(ICA1):c.891G>C (p.Gln297His)	ICA1 (Q223H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107876	NM_001136020.3(ICA1):c.884C>T (p.Ala295Val)	ICA1 (A220V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384272	NM_001136020.3(ICA1):c.875C>T (p.Thr292Ile)	ICA1 (T218I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243652	NM_001136020.3(ICA1):c.828A>C (p.Lys276Asn)	ICA1 (K202N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 982138	NM_001136020.3(ICA1):c.804+175T>C	ICA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982139	NM_001136020.3(ICA1):c.804+171T>C	ICA1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2632381	NM_001136020.3(ICA1):c.773G>T (p.Gly258Val)	ICA1 (G184V +2 more)	Single nucleotide variant (missense variant +2 more)	ICA1-related disorder	GUncertain significance
Select item 2211095	NM_001136020.3(ICA1):c.772G>T (p.Gly258Cys)	ICA1 (G184C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404380	NM_001136020.3(ICA1):c.769A>C (p.Lys257Gln)	ICA1 (K256Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534956	NM_001136020.3(ICA1):c.667A>G (p.Arg223Gly)	ICA1 (R222G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107874	NM_001136020.3(ICA1):c.618C>G (p.Asp206Glu)	ICA1 (D205E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107873	NM_001136020.3(ICA1):c.610A>T (p.Asn204Tyr)	ICA1 (N204Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 776206	NM_001136020.3(ICA1):c.582A>G (p.Val194=)	ICA1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GBenign
Select item 149368	GRCh38/hg38 7p21.3(chr7:8162001-8514772)x3	ICA1, ICA1-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 155251	GRCh38/hg38 7p21.3(chr7:8162035-9921241)x3	ICA1, ICA1-AS1 +10 more	Copy number gain	See cases	GLikely benign
Select item 151572	GRCh38/hg38 7p21.3(chr7:8162035-8480330)x3	ICA1, ICA1-AS1 +3 more	Copy number gain	See cases	GLikely benign
Select item 2569495	NM_001136020.3(ICA1):c.569A>C (p.Lys190Thr)	ICA1 (K116T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308613	NM_001136020.3(ICA1):c.563T>A (p.Met188Lys)	ICA1 (M114K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291259	NM_001136020.3(ICA1):c.508C>G (p.Leu170Val)	ICA1 (L170V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595892	NM_001136020.3(ICA1):c.434G>A (p.Arg145Gln)	ICA1 (R71Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340173	NM_001136020.3(ICA1):c.397C>A (p.Pro133Thr)	ICA1 (P133T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376799	NM_001136020.3(ICA1):c.391C>G (p.Arg131Gly)	ICA1 (R130G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382415	NM_001136020.3(ICA1):c.296G>A (p.Arg99Gln)	ICA1 (R25Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107871	NM_001136020.3(ICA1):c.161C>T (p.Ala54Val)	ICA1 (A53V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 786104	NM_001136020.3(ICA1):c.144T>C (p.His48=)	ICA1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3107872	NM_001136020.3(ICA1):c.31G>A (p.Asp11Asn)	ICA1 (D10N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217670	NM_001136020.3(ICA1):c.12C>A (p.His4Gln)	ICA1 (H4Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1340432	GRCh37/hg19 7p21.3(chr7:8177689-8529618)x3	ICA1, NXPH1	Copy number gain	not provided	GLikely benign
Select item 814930	GRCh37/hg19 7p21.3(chr7:8001572-8284937)x3	ICA1, GLCCI1	Copy number gain	not provided	GUncertain significance
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442294	GRCh37/hg19 7p21.3(chr7:7484861-9088037)x3	COL28A1, GLCCI1 +4 more	Copy number gain	See cases	GLikely benign
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 395435	GRCh37/hg19 7p21.3(chr7:8217864-8519960)x3	ICA1, NXPH1	Copy number gain	See cases	GLikely benign
Select item 394728	GRCh37/hg19 7p22.1-21.3(chr7:6870884-8177933)x3	C1GALT1, COL28A1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 80