29821[HGNC] - ClinVar

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Items: 48

	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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 3286645	NM_016368.5(ISYNA1):c.1670C>A (p.Thr557Asn)	ISYNA1 (T429N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286646	NM_016368.5(ISYNA1):c.1655A>G (p.Glu552Gly)	ISYNA1 (E498G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649581	NM_016368.5(ISYNA1):c.1653G>A (p.Glu551=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718680	NM_016368.5(ISYNA1):c.1626C>T (p.Thr542=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2218425	NM_016368.5(ISYNA1):c.1622G>A (p.Cys541Tyr)	ISYNA1 (C413Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111081	NM_016368.5(ISYNA1):c.1506G>A (p.Met502Ile)	ISYNA1 (M448I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111080	NM_016368.5(ISYNA1):c.1441C>T (p.Arg481Cys)	ISYNA1 (R353C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111079	NM_016368.5(ISYNA1):c.1423G>A (p.Val475Met)	ISYNA1 (V475M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735962	NM_016368.5(ISYNA1):c.1344C>G (p.Pro448=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716502	NM_016368.5(ISYNA1):c.1254+10G>A	ISYNA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 773353	NM_016368.5(ISYNA1):c.1254+4C>A	ISYNA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507768	NM_016368.5(ISYNA1):c.1247C>T (p.Thr416Met)	ISYNA1 (T288M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204390	NM_016368.5(ISYNA1):c.1078G>A (p.Val360Met)	ISYNA1 (V306M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299544	NM_016368.5(ISYNA1):c.1074C>A (p.Asn358Lys)	ISYNA1 (N230K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555317	NM_016368.5(ISYNA1):c.1069A>G (p.Ser357Gly)	ISYNA1 (S229G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208455	NM_016368.5(ISYNA1):c.1060G>A (p.Val354Met)	ISYNA1 (V226M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253755	NM_016368.5(ISYNA1):c.976A>G (p.Thr326Ala)	ISYNA1 (T326A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226785	NM_016368.5(ISYNA1):c.904G>A (p.Asp302Asn)	ISYNA1 (D174N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770463	NM_016368.5(ISYNA1):c.873C>T (p.Leu291=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 741531	NM_016368.5(ISYNA1):c.777G>A (p.Ser259=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2464314	NM_016368.5(ISYNA1):c.697C>A (p.Arg233Ser)	ISYNA1 (R233S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344960	NM_016368.5(ISYNA1):c.697C>T (p.Arg233Cys)	ISYNA1 (R105C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769964	NM_016368.5(ISYNA1):c.690C>T (p.Asn230=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769965	NM_016368.5(ISYNA1):c.635G>A (p.Arg212Gln)	ISYNA1 (R158Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3111085	NM_016368.5(ISYNA1):c.625A>G (p.Arg209Gly)	ISYNA1 (R155G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713405	NM_016368.5(ISYNA1):c.609+8C>T	ISYNA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2353771	NM_016368.5(ISYNA1):c.602C>T (p.Ala201Val)	ISYNA1 (A73V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111084	NM_016368.5(ISYNA1):c.574G>A (p.Ala192Thr)	ISYNA1 (A192T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111083	NM_016368.5(ISYNA1):c.445G>A (p.Glu149Lys)	ISYNA1 (E95K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111082	NM_016368.5(ISYNA1):c.406G>A (p.Val136Met)	ISYNA1 (V82M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 732685	NM_016368.5(ISYNA1):c.399C>T (p.Asn133=)	ISYNA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2284777	NM_016368.5(ISYNA1):c.287C>T (p.Ala96Val)	ISYNA1 (A42V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2401263	NM_016368.5(ISYNA1):c.262C>T (p.Pro88Ser)	ISYNA1 (P88S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260302	NM_016368.5(ISYNA1):c.250C>A (p.Arg84Ser)	ISYNA1 (R84S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612702	NM_016368.5(ISYNA1):c.149T>C (p.Phe50Ser)	ISYNA1 (F50S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617920	NM_016368.5(ISYNA1):c.83G>C (p.Arg28Pro)	ISYNA1 (R28P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455065	NM_016368.5(ISYNA1):c.49G>C (p.Gly17Arg)	ISYNA1 (G17R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561565	NM_016368.5(ISYNA1):c.32G>C (p.Ser11Thr)	ISYNA1 (S11T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111078	NM_016368.5(ISYNA1):c.10G>A (p.Ala4Thr)	ISYNA1 (A4T)	Single nucleotide variant (missense variant +1 more)	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 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
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: 48