3640[geneid] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 1174416	NM_005543.4(INSL3):c.*263G>A	INSL3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2290025	NM_005543.4(INSL3):c.380C>T (p.Thr127Ile)	INSL3 (T127I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1049795	NM_005543.4(INSL3):c.380C>G (p.Thr127Ser)	INSL3 (T127S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 14829	NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)	INSL3 (N110K +1 more)	Single nucleotide variant (missense variant)	Cryptorchidism	GPathogenic
Select item 2324376	NM_005543.4(INSL3):c.311A>C (p.His104Pro)	INSL3 (T136P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 14832	NM_005543.4(INSL3):c.305G>A (p.Arg102His)	INSL3 (R102H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 14831	NM_005543.4(INSL3):c.304C>T (p.Arg102Cys)	INSL3 (R102C)	Single nucleotide variant (synonymous variant +1 more)	Cryptorchidism	GPathogenic
Select item 14830	NM_005543.4(INSL3):c.278C>T (p.Pro93Leu)	INSL3 (P93L +1 more)	Single nucleotide variant (missense variant)	Cryptorchidism	GPathogenic
Select item 2344895	NM_005543.4(INSL3):c.244G>C (p.Asp82His)	INSL3 (D82H)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1050705	NM_005543.4(INSL3):c.244G>A (p.Asp82Asn)	INSL3 (D82N)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3109907	NM_005543.4(INSL3):c.232G>A (p.Gly78Arg)	INSL3 (G78R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326859	NM_005543.4(INSL3):c.218G>A (p.Arg73Gln)	INSL3 (D105N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 37092	NM_005543.4(INSL3):c.217C>T (p.Arg73Ter)	INSL3 (R73*)	Single nucleotide variant (synonymous variant +1 more)	Cryptorchidism	GPathogenic
Select item 2295304	NM_005543.4(INSL3):c.211G>C (p.Glu71Gln)	INSL3 (W102C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476229	NM_005543.4(INSL3):c.200T>C (p.Leu67Pro)	INSL3 (L67P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532471	NM_005543.4(INSL3):c.191G>C (p.Arg64Pro)	INSL3 (V96L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806185	NM_005543.4(INSL3):c.191G>T (p.Arg64Leu)	INSL3 (R64L +1 more)	Single nucleotide variant (missense variant)	Cryptorchidism +1 more	GUncertain significance
Select item 1249049	NM_005543.4(INSL3):c.191-30C>T	INSL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253265	NM_005543.4(INSL3):c.178A>G (p.Thr60Ala)	INSL3 (T60A)	Single nucleotide variant (missense variant)	Cryptorchidism +1 more	GBenign
Select item 3049387	NM_005543.4(INSL3):c.159C>G (p.Thr53=)	INSL3	Single nucleotide variant (synonymous variant)	INSL3-related disorder	GLikely benign
Select item 521489	NM_005543.4(INSL3):c.148dup (p.Arg50fs)	INSL3 (R50fs)	Duplication (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2429748	NM_005543.4(INSL3):c.143dup (p.Arg50fs)	INSL3 (R50fs)	Duplication (frameshift variant)	Bilateral cryptorchidism	GLikely pathogenic
Select item 3286145	NM_005543.4(INSL3):c.130C>T (p.Arg44Cys)	INSL3 (R44C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1271020	NM_005543.4(INSL3):c.126A>G (p.Leu42=)	INSL3	Single nucleotide variant (synonymous variant)	Cryptorchidism +1 more	GBenign
Select item 2387286	NM_005543.4(INSL3):c.115G>A (p.Val39Ile)	INSL3 (V39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376317	NM_005543.4(INSL3):c.115G>C (p.Val39Leu)	INSL3 (V39L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547664	NM_005543.4(INSL3):c.114C>A (p.Phe38Leu)	INSL3 (F38L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204591	NM_005543.4(INSL3):c.79C>T (p.Pro27Ser)	INSL3 (P27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298751	NM_005543.4(INSL3):c.79C>G (p.Pro27Ala)	INSL3 (P27A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043920	NM_005543.4(INSL3):c.71C>G (p.Ala24Gly)	INSL3 (A24G)	Single nucleotide variant (missense variant)	INSL3-related disorder	GBenign
Select item 3109908	NM_005543.4(INSL3):c.53T>C (p.Val18Ala)	INSL3 (V18A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1685291	NM_005543.4(INSL3):c.52G>A (p.Val18Met)	INSL3 (V18M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2282513	NM_005543.4(INSL3):c.44C>G (p.Pro15Arg)	INSL3 (P15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1277901	NM_005543.4(INSL3):c.27G>A (p.Ala9=)	INSL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3286144	NM_005543.4(INSL3):c.17C>T (p.Pro6Leu)	INSL3 (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3025216	NM_005543.4(INSL3):c.11G>A (p.Arg4His)	INSL3 (R4H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1234596	NC_000019.10:g.17821871A>G	INSL3	Single nucleotide variant	not provided	GBenign
Select item 1281516	NC_000019.10:g.17821901del	INSL3	Deletion	not provided	GBenign
Select item 1240624	NC_000019.10:g.17821901_17821902insTTG	INSL3	Insertion	not provided	GBenign
Select item 1237411	NC_000019.10:g.17821906_17821907insA	INSL3	Insertion	not provided	GBenign
Select item 1259437	NC_000019.10:g.17821908T>A	INSL3	Single nucleotide variant	not provided	GBenign
Select item 1265469	NC_000019.10:g.17821909A>T	INSL3	Single nucleotide variant	not provided	GBenign
Select item 1288351	NC_000019.10:g.17821915A>T	INSL3	Single nucleotide variant	not provided	GBenign
Select item 1230160	NC_000019.10:g.17821918A>G	INSL3	Single nucleotide variant	not provided	GBenign
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1409213	NC_000019.9:g.(?_17927663)_(17983505_?)dup	INSL3, JAK3 +2 more	Duplication	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 980193	GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3	RPL18A, NIBAN3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687270	GRCh37/hg19 19p13.11(chr19:17921282-18025754)x3	B3GNT3, INSL3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 56