6891[HGNC] - ClinVar

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Items: 81

	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 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 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 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 more	Copy number gain	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	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 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 154809	GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3	DTNA, GALNT1 +38 more	Copy number gain	See cases	GUncertain significance
Select item 2672722	NM_001143826.3(MAPRE2):c.-70+1440_-70+1443del	LOC126862725, MAPRE2 (M1fs)	Deletion (frameshift variant +2 more)	not provided	GLikely benign
Select item 2394791	NM_001143827.3(MAPRE2):c.83C>G (p.Ser28Ter)	MAPRE2 (S28*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2630049	NM_001143827.3(MAPRE2):c.86+1G>A	MAPRE2	Single nucleotide variant (splice donor variant)	MAPRE2-related disorder	GUncertain significance
Select item 2560219	NM_014268.4(MAPRE2):c.26C>T (p.Ser9Phe)	MAPRE2 (S9F)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2228766	NM_014268.4(MAPRE2):c.123-6T>C	MAPRE2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3042970	NM_014268.4(MAPRE2):c.156G>A (p.Ser52=)	MAPRE2	Single nucleotide variant (synonymous variant +2 more)	MAPRE2-related disorder	GLikely benign
Select item 633295	NM_014268.4(MAPRE2):c.169_176del (p.Thr57fs)	MAPRE2 (T14fs +2 more)	Deletion (frameshift variant +2 more)	Skin creases, congenital symmetric circumferential, 2	GLikely pathogenic
Select item 218929	NM_014268.4(MAPRE2):c.203A>G (p.Asn68Ser)	MAPRE2 (N68S +2 more)	Single nucleotide variant (missense variant +2 more)	Skin creases, congenital symmetric circumferential, 2	GPathogenic
Select item 713535	NM_014268.4(MAPRE2):c.250+8A>T	MAPRE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218927	NM_014268.4(MAPRE2):c.260A>G (p.Tyr87Cys)	MAPRE2 (Y87C +3 more)	Single nucleotide variant (missense variant +1 more)	Skin creases, congenital symmetric circumferential, 2	GPathogenic
Select item 2715958	NM_014268.4(MAPRE2):c.267A>G (p.Gln89=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3233757	NM_014268.4(MAPRE2):c.295A>G (p.Ile99Val)	MAPRE2 (I46V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3339046	NM_014268.4(MAPRE2):c.303G>A (p.Leu101=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1705460	NM_014268.4(MAPRE2):c.367G>A (p.Ala123Thr)	MAPRE2 (A111T +3 more)	Single nucleotide variant (missense variant +1 more)	Skin creases, congenital symmetric circumferential, 2	GUncertain significance
Select item 737711	NM_014268.4(MAPRE2):c.369A>T (p.Ala123=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 633596	NM_014268.4(MAPRE2):c.380G>A (p.Arg127Gln)	MAPRE2 (R115Q +3 more)	Single nucleotide variant (missense variant +1 more)	Skin creases, congenital symmetric circumferential, 2	GLikely pathogenic
Select item 782613	NM_014268.4(MAPRE2):c.387C>T (p.Asn129=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 more	Copy number gain	See cases	GPathogenic
Select item 739327	NM_014268.4(MAPRE2):c.408G>A (p.Val136=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 218930	NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys)	MAPRE2 (R143C +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 2621010	NM_014268.4(MAPRE2):c.428G>A (p.Arg143His)	MAPRE2 (R143H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 218928	NM_014268.4(MAPRE2):c.454C>T (p.Gln152Ter)	MAPRE2 (Q152* +3 more)	Single nucleotide variant (nonsense +1 more)	Skin creases, congenital symmetric circumferential, 2	GPathogenic
Select item 3236062	NM_014268.4(MAPRE2):c.473A>G (p.Tyr158Cys)	MAPRE2 (Y105C +3 more)	Single nucleotide variant (missense variant +1 more)	Skin creases, congenital symmetric circumferential, 2	GUncertain significance
Select item 729731	NM_014268.4(MAPRE2):c.495G>A (p.Lys165=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2498212	NM_014268.4(MAPRE2):c.517C>T (p.Arg173Ter)	MAPRE2 (R120* +3 more)	Single nucleotide variant (nonsense +1 more)	Skin creases, congenital symmetric circumferential, 2	GLikely pathogenic
Select item 1705433	NM_014268.4(MAPRE2):c.518G>A (p.Arg173Gln)	MAPRE2 (R120Q +3 more)	Single nucleotide variant (missense variant +1 more)	Skin creases, congenital symmetric circumferential, 2	GLikely pathogenic
Select item 762029	NM_014268.4(MAPRE2):c.603C>G (p.Pro201=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3345629	NM_014268.4(MAPRE2):c.656C>G (p.Ser219Cys)	MAPRE2 (S166C +3 more)	Single nucleotide variant (missense variant +1 more)	MAPRE2-related disorder	GUncertain significance
Select item 2323212	NM_014268.4(MAPRE2):c.659G>A (p.Arg220Gln)	MAPRE2 (R167Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 747542	NM_014268.4(MAPRE2):c.750+7C>T	MAPRE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722633	NM_014268.4(MAPRE2):c.780C>T (p.Gly260=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 721872	NM_014268.4(MAPRE2):c.810G>A (p.Gly270=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 746733	NM_014268.4(MAPRE2):c.814T>C (p.Leu272=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 788915	NM_014268.4(MAPRE2):c.846C>T (p.His282=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2548866	NM_014268.4(MAPRE2):c.872A>G (p.Gln291Arg)	MAPRE2 (Q238R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293277	NM_014268.4(MAPRE2):c.880A>C (p.Met294Leu)	MAPRE2 (M251L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3123391	NM_014268.4(MAPRE2):c.926A>T (p.Glu309Val)	MAPRE2 (E297V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593074	NM_014268.4(MAPRE2):c.926A>C (p.Glu309Ala)	MAPRE2 (E256A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3251648	NM_014268.4(MAPRE2):c.952G>A (p.Glu318Lys)	MAPRE2 (E265K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782046	NM_014268.4(MAPRE2):c.966G>A (p.Pro322=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
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 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
Select item 979690	GRCh37/hg19 18q12.1(chr18:32369954-32572826)x3	MAPRE2, DTNA	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 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	not provided	GPathogenic
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 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	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 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442113	GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1	ASXL3, C18orf21 +19 more	Copy number loss	See cases	GLikely pathogenic
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 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: 81