ClinVar for Gene (Select 1394) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077420	NM_004382.5(CRHR1):c.96C>A (p.Ser32Arg)	CRHR1, LINC02210-CRHR1 (S32R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077419	NM_004382.5(CRHR1):c.550A>G (p.Asn184Asp)	CRHR1, LINC02210-CRHR1 (N184D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077418	NM_004382.5(CRHR1):c.498C>T (p.Asn166=)	CRHR1, LINC02210-CRHR1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3077417	NM_004382.5(CRHR1):c.442C>T (p.Arg148Trp)	CRHR1, LINC02210-CRHR1 (R177W +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077416	NM_004382.5(CRHR1):c.437G>A (p.Ser146Asn)	CRHR1, LINC02210-CRHR1 (S106N +3 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077414	NM_004382.5(CRHR1):c.34G>A (p.Ala12Thr)	CRHR1, LINC02210-CRHR1 (A12T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3077413	NM_004382.5(CRHR1):c.142G>A (p.Val48Met)	CRHR1, LINC02210-CRHR1 (V48M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3077412	NM_004382.5(CRHR1):c.1147G>A (p.Asp383Asn)	CRHR1, LINC02210-CRHR1 (D369N +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063483	GRCh37/hg19 17q21.31(chr17:43459741-44292742)x1	ARHGAP27, SPPL2C +5 more	Copy number loss	not specified	GPathogenic
Select item 3054702	NM_004382.5(CRHR1):c.434+292G>T	CRHR1, LINC02210-CRHR1 (A163S)	Single nucleotide variant (missense variant +1 more)	CRHR1-related disorder	GLikely benign
Select item 3034597	NM_004382.5(CRHR1):c.434+293C>A	CRHR1, LINC02210-CRHR1 (A163D)	Single nucleotide variant (missense variant +1 more)	CRHR1-related disorder	GLikely benign
Select item 3024608	GRCh37/hg19 17q21.31(chr17:43738327-44172067)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 2647849	NM_004382.5(CRHR1):c.1171G>A (p.Val391Met)	CRHR1, LINC02210-CRHR1 (V216M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2548241	NM_004382.5(CRHR1):c.526A>G (p.Met176Val)	CRHR1, LINC02210-CRHR1 (M176V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531836	NM_004382.5(CRHR1):c.553G>A (p.Val185Met)	CRHR1, LINC02210-CRHR1 (V145M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521836	NM_004382.5(CRHR1):c.871G>A (p.Val291Ile)	CRHR1, LINC02210-CRHR1 (V116I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405820	NM_004382.5(CRHR1):c.283G>A (p.Ala95Thr)	CRHR1, LINC02210-CRHR1 (A95T +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2402338	NM_004382.5(CRHR1):c.61G>A (p.Val21Ile)	CRHR1, LINC02210-CRHR1 (V21I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2402286	NM_004382.5(CRHR1):c.1021C>T (p.Arg341Trp)	CRHR1, LINC02210-CRHR1 (R166W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393422	NM_004382.5(CRHR1):c.184C>A (p.Gln62Lys)	CRHR1, LINC02210-CRHR1 (Q62K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2382057	NM_004382.5(CRHR1):c.1138C>T (p.Arg380Trp)	CRHR1, LINC02210-CRHR1 (R366W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364082	NM_004382.5(CRHR1):c.1027G>A (p.Val343Ile)	CRHR1, LINC02210-CRHR1 (V303I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809344	GRCh37/hg19 17q21.31(chr17:43693538-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1808674	GRCh37/hg19 17q21.31(chr17:43622197-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 1710919	GRCh37/hg19 17q21.31(chr17:43703801-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 1703537	GRCh37/hg19 17q21.31(chr17:43703801-44212416)	CRHR1, KANSL1 +3 more	Copy number loss	Koolen-de Vries syndrome	GPathogenic
Select item 1411431	NC_000017.10:g.(?_43861911)_(44159928_?)del	STH, CRHR1 +3 more	Deletion	Koolen-de Vries syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1410324	NC_000017.10:g.(?_43861911)_(44145053_?)dup	CRHR1, KANSL1 +3 more	Duplication	Koolen-de Vries syndrome	GUncertain significance
Select item 1220555	NM_004382.5(CRHR1):c.*212G>A	CRHR1, LINC02210-CRHR1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 980719	GRCh37/hg19 17q21.31(chr17:43586396-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 815938	GRCh37/hg19 17q21.31(chr17:43655356-44784639)x3	ARL17A, ARL17B +8 more	Copy number gain	not provided	GPathogenic
Select item 800540	Single allele	CRHR1, KANSL1 +4 more	Deletion	Intellectual disability	GPathogenic
Select item 780430	NM_004382.5(CRHR1):c.435-10G>A	CRHR1, LINC02210-CRHR1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 771768	NM_004382.5(CRHR1):c.179C>T (p.Ala60Val)	CRHR1, LINC02210-CRHR1 (A60V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 768893	NM_004382.5(CRHR1):c.177T>C (p.Pro59=)	CRHR1, LINC02210-CRHR1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 749169	NM_004382.5(CRHR1):c.312G>A (p.Glu104=)	CRHR1, LINC02210-CRHR1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 708229	NM_004382.5(CRHR1):c.579C>T (p.Ala193=)	CRHR1, LINC02210-CRHR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 666442	GRCh37/hg19 17q21.31(chr17:43706886-44210822)x1	CRHR1, KANSL1 +3 more	Copy number loss	Koolen-de Vries syndrome	GPathogenic
Select item 564449	GRCh37/hg19 17q21.31(chr17:43703800-44212416)x1	KANSL1, STH +3 more	Copy number loss	not provided	GPathogenic
Select item 564448	GRCh37/hg19 17q21.31(chr17:43688308-44163085)x1	MAPT, KANSL1 +3 more	Copy number loss	not provided	GPathogenic
Select item 443423	GRCh37/hg19 17q21.31(chr17:43703801-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 443088	GRCh37/hg19 17q21.31(chr17:43710150-44292742)x3	CRHR1, KANSL1 +3 more	Copy number gain	See cases	GLikely pathogenic
Select item 442929	GRCh37/hg19 17q21.31(chr17:43655356-44292742)x3	CRHR1, KANSL1 +3 more	Copy number gain	See cases	GLikely pathogenic
Select item 442854	GRCh37/hg19 17q21.31(chr17:43703800-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 442059	GRCh37/hg19 17q21.31(chr17:43710370-44212416)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395154	GRCh37/hg19 17q21.31(chr17:43708346-44158662)x3	CRHR1, KANSL1 +3 more	Copy number gain	See cases	GPathogenic
Select item 394430	GRCh37/hg19 17q21.31(chr17:43585760-44248995)x1	CRHR1, KANSL1 +3 more	Copy number loss	See cases	GPathogenic
Select item 253584	GRCh37/hg19 17q21.31(chr17:43592410-44249054)x1	CRHR1, SPPL2C +3 more	Copy number loss	See cases	GPathogenic
Select item 161014	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 160838	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 155320	GRCh38/hg38 17q21.31(chr17:45626435-46110126)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 154006	GRCh38/hg38 17q21.31(chr17:45571125-46137522)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 153206	GRCh38/hg38 17q21.31(chr17:45544831-46124104)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 150548	GRCh38/hg38 17q21.31(chr17:45579327-46130578)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148960	GRCh38/hg38 17q21.31(chr17:45516110-46211895)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 148938	GRCh38/hg38 17q21.31(chr17:45629520-46094581)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 148620	GRCh38/hg38 17q21.31(chr17:45674308-45941967)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 148520	GRCh38/hg38 17q21.31(chr17:45629520-46079192)x3	CRHR1, KANSL1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 148451	GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 148313	GRCh38/hg38 17q21.31(chr17:45574365-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 148153	GRCh38/hg38 17q21.31(chr17:45578381-46177048)x1	LOC121852934, CRHR1 +10 more	Copy number loss	See cases	GPathogenic
Select item 147646	GRCh38/hg38 17q21.31(chr17:45640337-46267672)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 146297	GRCh38/hg38 17q21.31(chr17:45674308-45898400)x3	CRHR1, LINC02210-CRHR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 145067	GRCh38/hg38 17q21.31(chr17:45629520-46130611)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 144496	GRCh38/hg38 17q21.31(chr17:45578381-46130670)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57541	GRCh38/hg38 17q21.31(chr17:45674308-46273786)x1	CRHR1, KANSL1 +11 more	Copy number loss	See cases	GPathogenic
Select item 57540	GRCh38/hg38 17q21.31(chr17:45640337-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57539	GRCh38/hg38 17q21.31(chr17:45637714-46118962)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57538	GRCh38/hg38 17q21.31(chr17:45629520-46098805)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57528	GRCh38/hg38 17q21.31(chr17:45629520-46051878)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57526	GRCh38/hg38 17q21.31(chr17:45616241-46136454)x1	LOC121852934, CRHR1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57525	GRCh38/hg38 17q21.31(chr17:45598042-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 more	Copy number loss	See cases	GPathogenic
Select item 57290	GRCh38/hg38 17q21.31(chr17:45578381-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 57279	GRCh38/hg38 17q21.31(chr17:45629520-46061206)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 35239	GRCh38/hg38 17q21.31(chr17:45578381-46273786)x1	CRHR1, KANSL1 +12 more	Copy number loss	See cases	GPathogenic
Select item 32010	GRCh38/hg38 17q21.31(chr17:45629520-46111134)x1	CRHR1, KANSL1 +9 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 84