ClinVar for Gene (Select 3605) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 2553500	NM_002190.3(IL17A):c.302A>T (p.Asn101Ile)	IL17A (N101I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543405	NM_002190.3(IL17A):c.143A>T (p.Asn48Ile)	IL17A (N48I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514849	NM_002190.3(IL17A):c.416T>C (p.Leu139Pro)	IL17A (L139P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485402	NM_002190.3(IL17A):c.273G>T (p.Glu91Asp)	IL17A (E91D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391973	NM_002190.3(IL17A):c.236A>G (p.Asn79Ser)	IL17A (N79S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361732	NM_002190.3(IL17A):c.271G>A (p.Glu91Lys)	IL17A (E91K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251932	NM_002190.3(IL17A):c.355A>G (p.Ile119Val)	IL17A (I119V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1278437	NC_000006.12:g.52186235G>A	IL17A	Single nucleotide variant	not provided	GBenign
Select item 1273159	NM_002190.3(IL17A):c.27+18G>A	IL17A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1270340	NM_002190.3(IL17A):c.*1249C>T	IL17A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266947	NM_002190.3(IL17A):c.*159G>A	IL17A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1178355	NM_002190.3(IL17A):c.231-257T>C	IL17A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1042479	NC_000006.11:g.(?_51930764)_(52906034_?)del	GSTA4, CILK1 +15 more	Deletion	not provided	GUncertain significance
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 916002	GRCh37/hg19 6p12.3-12.2(chr6:51695623-52371918)	EFHC1, IL17A +7 more	Copy number loss	Autosomal recessive polycystic kidney disease	GPathogenic
Select item 771398	NM_002190.3(IL17A):c.402G>A (p.Arg134=)	IL17A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688629	GRCh37/hg19 6p12.3-12.2(chr6:51637152-52303162)x3	EFHC1, IL17A +6 more	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	ADGRF1, ADGRF2 +228 more	Copy number loss	See cases	GPathogenic
Select item 147999	GRCh38/hg38 6p12.3-12.1(chr6:51093754-53859634)x4	CILK1, EFHC1 +119 more	Copy number gain	See cases	GPathogenic
Select item 147421	GRCh38/hg38 6p12.2(chr6:51803422-52698500)x1	EFHC1, IL17A +58 more	Copy number loss	See cases	GPathogenic
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26