24489[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 34

	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 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2649698	NM_015578.4(LSM14A):c.30C>T (p.Ser10=)	LSM14A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2286752	NM_015578.4(LSM14A):c.323T>A (p.Met108Lys)	LSM14A (M108K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121314	NM_015578.4(LSM14A):c.482C>G (p.Ala161Gly)	LSM14A (A150G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121315	NM_015578.4(LSM14A):c.506A>G (p.Asp169Gly)	LSM14A (D62G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121316	NM_015578.4(LSM14A):c.583A>G (p.Met195Val)	LSM14A (M101V +4 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3121317	NM_015578.4(LSM14A):c.604G>A (p.Ala202Thr)	LSM14A (A95T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121318	NM_015578.4(LSM14A):c.764A>G (p.Asp255Gly)	LSM14A (D161G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121307	NM_015578.4(LSM14A):c.1015G>C (p.Asp339His)	LSM14A (D171H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121308	NM_015578.4(LSM14A):c.1048A>C (p.Asn350His)	LSM14A (N230H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236948	NM_015578.4(LSM14A):c.1054G>A (p.Asp352Asn)	LSM14A (D184N +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121309	NM_015578.4(LSM14A):c.1142G>A (p.Arg381Gln)	LSM14A (R274Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121310	NM_015578.4(LSM14A):c.1195C>T (p.Pro399Ser)	LSM14A (P318S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526727	NM_015578.4(LSM14A):c.1267C>T (p.Arg423Cys)	LSM14A (R316C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121311	NM_015578.4(LSM14A):c.1304G>A (p.Arg435Gln)	LSM14A (R315Q +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352753	NM_015578.4(LSM14A):c.1312C>A (p.Arg438Ser)	LSM14A (R270S +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485033	NM_015578.4(LSM14A):c.1334G>A (p.Arg445His)	LSM14A (R325H +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121312	NM_015578.4(LSM14A):c.1367G>C (p.Arg456Thr)	LSM14A (R415T +10 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121313	NM_015578.4(LSM14A):c.1369-950C>T	LSM14A (T398I +7 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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
Select item 394908	GRCh37/hg19 19q13.11(chr19:34366153-34688730)x3	LSM14A	Copy number gain	See cases	GBenign
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221884	GRCh37/hg19 19q13.11(chr19:34480641-34687560)x3	LSM14A	Copy number gain	Premature ovarian failure	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 34