10787[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic
Select item 3170271	NM_001320214.2(SRSF5):c.241G>A (p.Gly81Ser)	SRSF5 (G81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322760	NM_001320214.2(SRSF5):c.256T>C (p.Ser86Pro)	SRSF5 (S86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170272	NM_001320214.2(SRSF5):c.261C>A (p.Asp87Glu)	SRSF5 (D87E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621145	NM_001320214.2(SRSF5):c.302C>T (p.Ala101Val)	SRSF5 (A101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170273	NM_001320214.2(SRSF5):c.613C>T (p.Arg205Cys)	LOC126861979, SRSF5 (R205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289959	NM_001320214.2(SRSF5):c.614G>A (p.Arg205His)	LOC126861979, SRSF5 (R205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507835	NM_001320214.2(SRSF5):c.640C>T (p.Arg214Trp)	LOC126861979, SRSF5 (R214W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322759	NM_001320214.2(SRSF5):c.664C>T (p.Arg222Trp)	LOC126861979, SRSF5 (R222W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312667	NM_001320214.2(SRSF5):c.680C>G (p.Ser227Cys)	LOC126861979, SRSF5 (S227C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326222	NM_001320214.2(SRSF5):c.682C>A (p.Arg228Ser)	LOC126861979, SRSF5 (R228S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293827	NM_001320214.2(SRSF5):c.716G>A (p.Ser239Asn)	LOC126861979, SRSF5 (S239N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2295601	NM_001320214.2(SRSF5):c.725G>T (p.Arg242Leu)	LOC126861979, SRSF5 (R242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170275	NM_001320214.2(SRSF5):c.736A>G (p.Ser246Gly)	LOC126861979, SRSF5 (S246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170276	NM_001320214.2(SRSF5):c.765T>G (p.Asp255Glu)	LOC126861979, SRSF5 (D255E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294914	NM_001320214.2(SRSF5):c.778C>T (p.Arg260Trp)	LOC126861979, SRSF5 (R260W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211899	NM_001320214.2(SRSF5):c.814A>G (p.Asn272Asp)	LOC126861979, SRSF5 (N272D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2423522	NC_000014.8:g.(?_68699594)_(70654407_?)del	ACTN1, CCDC177 +13 more	Deletion	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 815671	GRCh37/hg19 14q24.1-24.2(chr14:70102024-70330099)x3	SRSF5, SUSD6 +1 more	Copy number gain	not provided	GLikely benign
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 443425	GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1	ACTN1, ADAM20 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 27