ICA1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 84

	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	CUL1, CUX1 +4737 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 3285156	NM_001136020.3(ICA1):c.1170C>A (p.Phe390Leu)	ICA1 (F418L +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 3285159	NM_001136020.3(ICA1):c.620A>G (p.Lys207Arg)	ICA1 (K206R +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 (synonymous 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 3285158	NM_001136020.3(ICA1):c.44G>A (p.Arg15Gln)	ICA1 (R14Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3285157	NM_001136020.3(ICA1):c.44G>C (p.Arg15Pro)	ICA1 (R14P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 84