17871[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 2387108	NM_170678.3(NMRK2):c.50C>T (p.Thr17Met)	NMRK2 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278105	NM_170678.3(NMRK2):c.205G>A (p.Val69Met)	NMRK2 (V69M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770652	NM_170678.3(NMRK2):c.258C>T (p.Ser86=)	NMRK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2480103	NM_170678.3(NMRK2):c.316A>C (p.Ser106Arg)	NMRK2 (S106R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200841	NM_170678.3(NMRK2):c.339G>C (p.Leu113Phe)	NMRK2 (L118F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200842	NM_170678.3(NMRK2):c.364G>A (p.Val122Ile)	NMRK2 (V127I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599785	NM_170678.3(NMRK2):c.401G>A (p.Arg134His)	NMRK2 (R110H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3300171	NM_170678.3(NMRK2):c.416C>T (p.Pro139Leu)	NMRK2 (P144L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306603	NM_170678.3(NMRK2):c.455T>G (p.Met152Arg)	NMRK2 (M152R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200843	NM_170678.3(NMRK2):c.485C>T (p.Ala162Val)	NMRK2 (A138V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372267	NM_170678.3(NMRK2):c.527G>A (p.Arg176Gln)	NMRK2 (R176Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312624	NM_170678.3(NMRK2):c.581G>A (p.Arg194His)	NMRK2 (R194H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3200844	NM_170678.3(NMRK2):c.634G>A (p.Gly212Arg)	NMRK2 (G188R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2391868	NM_170678.3(NMRK2):c.638G>T (p.Arg213Leu)	NMRK2 (R189L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339688	NM_170678.3(NMRK2):c.646G>A (p.Gly216Ser)	NMRK2 (G216S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 3242666	NC_000019.9:g.(?_3917720)_(4818389_?)dup	ANKRD24, ATCAY +27 more	Duplication	not provided	GUncertain significance
Select item 3062389	GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	EBI3, EEF2 +30 more	Copy number loss	not specified	GUncertain significance
Select item 3062379	GRCh37/hg19 19p13.3(chr19:3794098-4036681)x1	ATCAY, DAPK3 +5 more	Copy number loss	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 1340547	GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	ANKRD24, APBA3 +46 more	Copy number loss	not provided	GPathogenic
Select item 1340292	GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1	ANKRD24, ATCAY +10 more	Copy number loss	not provided	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635915	Single allele	ATCAY, CACTIN +50 more	Deletion	Internal malformations	GUncertain significance
Select item 625734	GRCh37/hg19 19p13.3(chr19:3076808-4796782)	ANKRD24, APBA3 +48 more	Copy number loss	not provided	GPathogenic
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 549647	Single allele	CREB3L3, SHD +28 more	Duplication	Primary amenorrhea	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: 43