HAVCR1[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	ADAM19, ADAMTS2 +863 more	Copy number gain	See cases	GPathogenic
Select item 59473	GRCh38/hg38 5q33.3(chr5:156991620-157210423)x3	GARIN3, HAVCR1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 3038946	NM_001173393.3(HAVCR1):c.*35G>A	HAVCR1 (E366K)	Single nucleotide variant (3 prime UTR variant +1 more)	HAVCR1-related disorder	GBenign
Select item 3037347	NM_001173393.3(HAVCR1):c.*13C>A	HAVCR1 (C358*)	Single nucleotide variant (3 prime UTR variant +1 more)	HAVCR1-related disorder	GBenign
Select item 3104387	NM_001173393.3(HAVCR1):c.1002C>A (p.Ser334Arg)	HAVCR1 (A323D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061024	NM_001173393.3(HAVCR1):c.987-10C>A	HAVCR1	Single nucleotide variant (intron variant)	HAVCR1-related disorder	GBenign
Select item 3059623	NM_001173393.3(HAVCR1):c.986+9G>A	HAVCR1	Single nucleotide variant (intron variant)	HAVCR1-related disorder	GBenign
Select item 2596332	NM_001173393.3(HAVCR1):c.965A>G (p.Lys322Arg)	HAVCR1 (K322R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104392	NM_001173393.3(HAVCR1):c.949A>G (p.Lys317Glu)	HAVCR1 (K317E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104391	NM_001173393.3(HAVCR1):c.922C>T (p.Leu308Phe)	HAVCR1 (L308F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601414	NM_001173393.3(HAVCR1):c.888C>G (p.Ile296Met)	HAVCR1 (I296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295198	NM_001173393.3(HAVCR1):c.886A>C (p.Ile296Leu)	HAVCR1 (I296L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236889	NM_001173393.3(HAVCR1):c.856A>G (p.Ser286Gly)	HAVCR1 (S286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104390	NM_001173393.3(HAVCR1):c.850G>A (p.Glu284Lys)	HAVCR1 (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050119	NM_001173393.3(HAVCR1):c.660G>A (p.Gln220=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GLikely benign
Select item 2255703	NM_001173393.3(HAVCR1):c.622G>A (p.Val208Ile)	HAVCR1 (V208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059346	NM_001173393.3(HAVCR1):c.621T>G (p.Thr207=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GBenign
Select item 3060126	NM_001173393.3(HAVCR1):c.619A>G (p.Thr207Ala)	HAVCR1 (T207A)	Single nucleotide variant (missense variant)	HAVCR1-related disorder	GBenign
Select item 3034055	NM_001173393.3(HAVCR1):c.618A>G (p.Thr206=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GLikely benign
Select item 3283564	NM_001173393.3(HAVCR1):c.595A>G (p.Thr199Ala)	HAVCR1 (T199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769669	NM_001173393.3(HAVCR1):c.581C>T (p.Thr194Met)	HAVCR1 (T194M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2372148	NM_001173393.3(HAVCR1):c.568G>A (p.Val190Ile)	HAVCR1 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293137	NM_001173393.3(HAVCR1):c.566G>A (p.Ser189Asn)	HAVCR1 (S189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783620	NM_001173393.3(HAVCR1):c.557C>T (p.Thr186Met)	HAVCR1 (T186M)	Single nucleotide variant (missense variant)	HAVCR1-related disorder +1 more	GBenign
Select item 2655986	NM_001173393.3(HAVCR1):c.555A>G (p.Ser185=)	HAVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2458803	NM_001173393.3(HAVCR1):c.553T>C (p.Ser185Pro)	HAVCR1 (S185P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059144	NM_001173393.3(HAVCR1):c.536T>C (p.Leu179Pro)	HAVCR1 (L179P)	Single nucleotide variant (missense variant)	HAVCR1-related disorder	GBenign
Select item 3039113	NM_001173393.3(HAVCR1):c.521C>T (p.Thr174Met)	HAVCR1 (T174M)	Single nucleotide variant (missense variant)	HAVCR1-related disorder	GBenign
Select item 2370934	NM_001173393.3(HAVCR1):c.521C>A (p.Thr174Lys)	HAVCR1 (T174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408035	NM_001173393.3(HAVCR1):c.488C>T (p.Thr163Met)	HAVCR1 (T163M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769670	NM_001173393.3(HAVCR1):c.473_487del (p.Met158_Pro162del)	HAVCR1	Deletion (inframe_deletion)	not provided	GBenign
Select item 402920	NM_001173393.3(HAVCR1):c.476_477insAAC (p.Thr160dup)	HAVCR1	Insertion (inframe_insertion)	not specified +1 more	GBenign
Select item 2287861	NM_001173393.3(HAVCR1):c.445A>G (p.Thr149Ala)	HAVCR1 (T149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104389	NM_001173393.3(HAVCR1):c.437C>T (p.Thr146Met)	HAVCR1 (T146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718249	NM_001173393.3(HAVCR1):c.425C>G (p.Thr142Arg)	HAVCR1 (T142R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2224745	NM_001173393.3(HAVCR1):c.328C>T (p.Arg110Cys)	HAVCR1 (R110C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343754	NM_001173393.3(HAVCR1):c.298A>G (p.Ser100Gly)	HAVCR1 (S100G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779245	NM_001173393.3(HAVCR1):c.295G>C (p.Asp99His)	HAVCR1 (D99H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2401392	NM_001173393.3(HAVCR1):c.214C>T (p.Arg72Trp)	HAVCR1 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778225	NM_001173393.3(HAVCR1):c.204C>T (p.His68=)	HAVCR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788993	NM_001173393.3(HAVCR1):c.150C>T (p.Gly50=)	HAVCR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2655987	NM_001173393.3(HAVCR1):c.145A>C (p.Arg49=)	HAVCR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322983	NM_001173393.3(HAVCR1):c.139T>G (p.Trp47Gly)	HAVCR1 (W47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059705	NM_001173393.3(HAVCR1):c.132C>A (p.Ser44=)	HAVCR1	Single nucleotide variant (synonymous variant)	HAVCR1-related disorder	GBenign
Select item 2312608	NM_001173393.3(HAVCR1):c.58G>T (p.Gly20Cys)	HAVCR1 (G20C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040665	NM_001173393.3(HAVCR1):c.46+5G>A	HAVCR1	Single nucleotide variant (intron variant)	HAVCR1-related disorder	GLikely benign
Select item 2327356	NM_001173393.3(HAVCR1):c.14T>C (p.Val5Ala)	HAVCR1 (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1481597	NC_000005.9:g.(?_155935591)_(156899968_?)del	GARIN3, MED7 +8 more	Deletion	not provided	GUncertain significance
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 814756	GRCh37/hg19 5q33.3-35.1(chr5:156347980-169959880)x1	ADAM19, ADRA1B +51 more	Copy number loss	not provided	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 253504	GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1	ADAM19, ADRA1B +50 more	Copy number loss	See cases	GPathogenic
Select item 4270	HAVCR1, 6-AA INS	HAVCR1	Insertion	IgE responsiveness, atopic	GAffects

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Items: 64