23925[HGNC] - ClinVar

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Items: 92

	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 2285054	NM_014772.3(CTIF):c.44G>A (p.Ser15Asn)	CTIF (S15N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078625	NM_014772.3(CTIF):c.50G>A (p.Arg17His)	CTIF (R17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270065	NM_014772.3(CTIF):c.61A>C (p.Ile21Leu)	CTIF (I21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292599	NM_014772.3(CTIF):c.85G>A (p.Asp29Asn)	CTIF (D29N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485556	NM_014772.3(CTIF):c.108G>C (p.Gln36His)	CTIF (Q36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350348	NM_014772.3(CTIF):c.115G>A (p.Gly39Arg)	CTIF (G39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675706	NM_014772.3(CTIF):c.153C>T (p.Ser51=)	CTIF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3078621	NM_014772.3(CTIF):c.169C>T (p.His57Tyr)	CTIF (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771922	NM_014772.3(CTIF):c.189G>A (p.Ala63=)	CTIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3078623	NM_014772.3(CTIF):c.203C>T (p.Pro68Leu)	CTIF (P68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295552	NM_014772.3(CTIF):c.316G>A (p.Asp106Asn)	CTIF (D106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768933	NM_014772.3(CTIF):c.326+4A>G	CTIF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2487258	NM_014772.3(CTIF):c.357G>C (p.Lys119Asn)	CTIF (K119N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604937	NM_014772.3(CTIF):c.379C>A (p.Arg127Ser)	CTIF (R127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378109	NM_014772.3(CTIF):c.417C>G (p.His139Gln)	CTIF (H139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078624	NM_014772.3(CTIF):c.425G>A (p.Arg142His)	CTIF (R142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593504	NM_014772.3(CTIF):c.484G>A (p.Glu162Lys)	CTIF (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405674	NM_014772.3(CTIF):c.602C>T (p.Pro201Leu)	CTIF (P201L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298386	NM_014772.3(CTIF):c.655C>A (p.His219Asn)	CTIF (H219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595150	NM_014772.3(CTIF):c.662G>A (p.Arg221Lys)	CTIF (R221K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536050	NM_014772.3(CTIF):c.684G>C (p.Gln228His)	CTIF (Q228H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078627	NM_014772.3(CTIF):c.742C>T (p.Arg248Trp)	CTIF (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485906	NM_014772.3(CTIF):c.756T>G (p.His252Gln)	CTIF (H252Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485907	NM_014772.3(CTIF):c.761A>C (p.Asn254Thr)	CTIF (N254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364805	NM_014772.3(CTIF):c.799G>A (p.Ala267Thr)	CTIF (A267T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3270068	NM_014772.3(CTIF):c.806G>A (p.Arg269His)	CTIF (R269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249822	NM_014772.3(CTIF):c.812C>T (p.Ala271Val)	CTIF (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786340	NM_014772.3(CTIF):c.831C>T (p.Ile277=)	CTIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3078628	NM_014772.3(CTIF):c.868G>A (p.Gly290Arg)	CTIF (G290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519268	NM_014772.3(CTIF):c.880C>T (p.Leu294Phe)	CTIF (L294F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463910	NM_014772.3(CTIF):c.893G>A (p.Arg298His)	CTIF (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270062	NM_014772.3(CTIF):c.929G>A (p.Arg310Gln)	CTIF (R310Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078629	NM_014772.3(CTIF):c.946T>C (p.Ser316Pro)	CTIF (S316P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460859	NM_014772.3(CTIF):c.950G>C (p.Gly317Ala)	CTIF (G317A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526897	NM_014772.3(CTIF):c.998G>A (p.Arg333His)	CTIF (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351107	NM_014772.3(CTIF):c.1052G>A (p.Arg351Gln)	CTIF (R351Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215446	NM_014772.3(CTIF):c.1084G>A (p.Val362Met)	CTIF (V362M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270066	NM_014772.3(CTIF):c.1099C>T (p.Pro367Ser)	CTIF (P367S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078618	NM_014772.3(CTIF):c.1129G>A (p.Glu377Lys)	CTIF (E379K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270063	NM_014772.3(CTIF):c.1157G>A (p.Ser386Asn)	CTIF (S386N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078619	NM_014772.3(CTIF):c.1249A>G (p.Ile417Val)	CTIF (I419V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270067	NM_014772.3(CTIF):c.1256A>G (p.Gln419Arg)	CTIF (Q419R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078620	NM_014772.3(CTIF):c.1306G>A (p.Asp436Asn)	CTIF (D436N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238258	NM_014772.3(CTIF):c.1354C>T (p.Leu452Phe)	CTIF (L452F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270064	NM_014772.3(CTIF):c.1384G>T (p.Val462Leu)	CTIF (V462L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370012	NM_014772.3(CTIF):c.1541A>G (p.Gln514Arg)	CTIF (Q514R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078622	NM_014772.3(CTIF):c.1757C>T (p.Thr586Met)	CTIF (T588M +1 more)	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 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 1675712	GRCh37/hg19 18q21.1(chr18:46237990-46288060)x1	CTIF	Copy number loss	not provided	GUncertain significance
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 979698	GRCh37/hg19 18q21.1(chr18:45819147-46170900)x3	CTIF	Copy number gain	not provided	GUncertain significance
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 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 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: 92