6773[HGNC] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 3057645	NM_005904.4(SMAD7):c.*5G>A	SMAD7	Single nucleotide variant (3 prime UTR variant)	SMAD7-related disorder	GLikely benign
Select item 2526882	NM_005904.4(SMAD7):c.1166C>T (p.Pro389Leu)	SMAD7 (P388L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508694	NM_005904.4(SMAD7):c.1114G>A (p.Glu372Lys)	SMAD7 (E372K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714872	NM_005904.4(SMAD7):c.1086C>T (p.Pro362=)	SMAD7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1050390	NM_005904.4(SMAD7):c.1062G>A (p.Thr354=)	SMAD7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2324096	NM_005904.4(SMAD7):c.1033G>A (p.Ala345Thr)	SMAD7 (A130T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352510	NM_005904.4(SMAD7):c.909G>A (p.Ser303=)	SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related disorder	GLikely benign
Select item 6725	NM_005904.4(SMAD7):c.743-5183=	SMAD7	Single nucleotide variant (intron variant)	Colorectal cancer, susceptibility to, 3	Grisk factor
Select item 981849	NM_005904.4(SMAD7):c.713C>T (p.Thr238Met)	LOC126862741, SMAD7 (T237M +3 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2240616	NM_005904.4(SMAD7):c.688C>A (p.Pro230Thr)	LOC126862741, SMAD7 (P230T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059472	NM_005904.4(SMAD7):c.668-21C>T	LOC126862741, SMAD7 (S28F)	Single nucleotide variant (missense variant +1 more)	SMAD7-related disorder	GBenign
Select item 3060367	NM_005904.4(SMAD7):c.667+8G>A	SMAD7	Single nucleotide variant (intron variant)	SMAD7-related disorder	GLikely benign
Select item 2496374	NM_005904.4(SMAD7):c.625C>T (p.Pro209Ser)	SMAD7 (P209S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1301682	NM_005904.4(SMAD7):c.625C>A (p.Pro209Thr)	SMAD7 (P209T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786841	NM_005904.4(SMAD7):c.624C>T (p.Pro208=)	SMAD7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713314	NM_005904.4(SMAD7):c.624C>A (p.Pro208=)	SMAD7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3350989	NM_005904.4(SMAD7):c.614-8A>C	SMAD7	Single nucleotide variant (intron variant)	SMAD7-related disorder	GLikely benign
Select item 2320503	NM_005904.4(SMAD7):c.482A>G (p.Lys161Arg)	LOC130062470, SMAD7 (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472641	NM_005904.4(SMAD7):c.433C>A (p.Gln145Lys)	LOC130062470, SMAD7 (Q145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166255	NM_005904.4(SMAD7):c.431C>A (p.Ala144Glu)	LOC130062470, SMAD7 (A144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569528	NM_005904.4(SMAD7):c.430G>T (p.Ala144Ser)	LOC130062470, SMAD7 (A144S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2568858	NM_005904.4(SMAD7):c.413C>T (p.Pro138Leu)	LOC130062470, SMAD7 (P138L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399088	NM_005904.4(SMAD7):c.388G>A (p.Gly130Ser)	LOC130062470, SMAD7 (G130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166253	NM_005904.4(SMAD7):c.281C>T (p.Ala94Val)	LOC130062470, SMAD7 (A94V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385506	NM_005904.4(SMAD7):c.262G>A (p.Ala88Thr)	LOC130062470, SMAD7 (A88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034497	NM_005904.4(SMAD7):c.255C>T (p.Ala85=)	LOC130062470, SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related disorder	GLikely benign
Select item 2240687	NM_005904.4(SMAD7):c.254C>T (p.Ala85Val)	LOC130062470, SMAD7 (A85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569526	NM_005904.4(SMAD7):c.251C>T (p.Ala84Val)	SMAD7, LOC130062470 (A84V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508621	NM_005904.4(SMAD7):c.244G>A (p.Ala82Thr)	LOC130062470, SMAD7 (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320657	NM_005904.4(SMAD7):c.236C>T (p.Ala79Val)	LOC130062470, SMAD7 (A79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039455	NM_005904.4(SMAD7):c.234A>G (p.Pro78=)	LOC130062470, SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related disorder	GBenign
Select item 2277230	NM_005904.4(SMAD7):c.220C>A (p.His74Asn)	LOC130062470, SMAD7 (H74N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337761	NM_005904.4(SMAD7):c.211G>T (p.Gly71Cys)	LOC130062470, SMAD7 (G71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033527	NM_005904.4(SMAD7):c.186G>A (p.Leu62=)	SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related disorder	GLikely benign
Select item 743759	NM_005904.4(SMAD7):c.184C>T (p.Leu62=)	SMAD7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3320658	NM_005904.4(SMAD7):c.183C>G (p.Cys61Trp)	SMAD7 (C61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247899	NM_005904.4(SMAD7):c.166G>A (p.Gly56Ser)	SMAD7 (G56S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2569525	NM_005904.4(SMAD7):c.163C>G (p.Pro55Ala)	SMAD7 (P55A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320656	NM_005904.4(SMAD7):c.143A>T (p.His48Leu)	SMAD7 (H48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569524	NM_005904.4(SMAD7):c.133A>G (p.Ser45Gly)	SMAD7 (S45G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166252	NM_005904.4(SMAD7):c.124G>A (p.Ala42Thr)	SMAD7 (A42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718639	NM_005904.4(SMAD7):c.115G>A (p.Gly39Arg)	SMAD7 (G39R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166251	NM_005904.4(SMAD7):c.113G>A (p.Arg38Gln)	SMAD7 (R38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273474	NM_005904.4(SMAD7):c.103G>A (p.Gly35Ser)	SMAD7 (G35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341769	NM_005904.4(SMAD7):c.88G>A (p.Gly30Arg)	SMAD7 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047025	NM_005904.4(SMAD7):c.87G>C (p.Gly29=)	SMAD7	Single nucleotide variant (synonymous variant)	SMAD7-related disorder	GLikely benign
Select item 2569529	NM_005904.4(SMAD7):c.85G>T (p.Gly29Trp)	SMAD7 (G29W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274631	NM_005904.4(SMAD7):c.78G>C (p.Glu26Asp)	SMAD7 (E26D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482930	NM_005904.4(SMAD7):c.55C>G (p.Pro19Ala)	SMAD7 (P19A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510111	NM_005904.4(SMAD7):c.34C>A (p.Arg12Ser)	SMAD7 (R12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063545	GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1	ARK2C, ARK2N +29 more	Copy number loss	not specified	GPathogenic
Select item 2426339	NC_000018.9:g.(?_46450976)_(46690177_?)dup	DYM, SMAD7	Duplication	not provided	GUncertain significance
Select item 1808221	GRCh37/hg19 18q21.1(chr18:46379233-46777416)x3	CTIF, DYM +1 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526614	GRCh37/hg19 18q21.1(chr18:46379232-46778034)	CTIF, DYM +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340243	GRCh37/hg19 18q21.1(chr18:46379233-46642420)x3	CTIF, DYM +1 more	Copy number gain	not provided	GUncertain significance
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 687031	GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3	CTIF, DYM +7 more	Copy number gain	not provided	GUncertain significance
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 564506	GRCh37/hg19 18q21.1(chr18:46379232-46778031)x3	DYM, CTIF +1 more	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 93