6732[Gene ID] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2296318	NM_003137.5(SRPK1):c.1964C>T (p.Ser655Phe)	SRPK1 (S655F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322663	NM_003137.5(SRPK1):c.1936G>A (p.Glu646Lys)	SRPK1 (E646K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397215	NM_003137.5(SRPK1):c.1438G>A (p.Val480Ile)	SRPK1 (V480I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170035	NM_003137.5(SRPK1):c.1400T>C (p.Leu467Pro)	SRPK1 (L467P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280981	NM_003137.5(SRPK1):c.1393G>A (p.Gly465Arg)	SRPK1 (G465R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591852	NM_003137.5(SRPK1):c.1241G>C (p.Cys414Ser)	SRPK1 (C414S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215487	NM_003137.5(SRPK1):c.1080T>G (p.Ile360Met)	SRPK1 (I360M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593967	NM_003137.5(SRPK1):c.1006A>G (p.Ile336Val)	SRPK1 (I336V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314690	NM_003137.5(SRPK1):c.854G>A (p.Arg285Gln)	SRPK1 (R285Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409601	NM_003137.5(SRPK1):c.640A>G (p.Ile214Val)	SRPK1 (I214V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367218	NM_003137.5(SRPK1):c.622C>A (p.Arg208Ser)	SRPK1 (R208S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276911	NM_003137.5(SRPK1):c.449A>G (p.Asp150Gly)	SRPK1 (D150G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479041	NM_003137.5(SRPK1):c.377G>A (p.Arg126Gln)	SRPK1 (R126Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170038	NM_003137.5(SRPK1):c.308A>G (p.Lys103Arg)	SRPK1 (K103R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322454	NM_003137.5(SRPK1):c.222T>G (p.Asp74Glu)	SRPK1 (D74E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170037	NM_003137.5(SRPK1):c.215T>C (p.Ile72Thr)	SRPK1 (I72T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170036	NM_003137.5(SRPK1):c.188G>T (p.Cys63Phe)	SRPK1 (C63F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510887	NM_003137.5(SRPK1):c.181G>A (p.Asp61Asn)	SRPK1 (D61N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319099	NM_003137.5(SRPK1):c.176C>G (p.Pro59Arg)	SRPK1 (P59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246250	NC_000006.11:g.(?_35773448)_(36953949_?)del	BRPF3, BNIP5 +18 more	Deletion	not provided	GPathogenic
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ARMC12, BRPF3 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 29