ClinVar for Gene (Select 6722) - ClinVar

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

Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322622	NM_003131.4(SRF):c.1288G>A (p.Val430Met)	SRF (V226M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169948	NM_003131.4(SRF):c.865A>G (p.Met289Val)	SRF (M289V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169947	NM_003131.4(SRF):c.47C>T (p.Ser16Leu)	LOC129996494, SRF (S16L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169946	NM_003131.4(SRF):c.1195G>A (p.Val399Met)	SRF (V195M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656578	NM_003131.4(SRF):c.1411T>G (p.Ser471Ala)	SRF (S267A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611340	NM_003131.4(SRF):c.892C>T (p.Pro298Ser)	SRF (P94S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569551	NM_003131.4(SRF):c.349T>G (p.Ser117Ala)	SRF (S117A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569550	NM_003131.4(SRF):c.325A>G (p.Met109Val)	SRF (M109V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517585	NM_003131.4(SRF):c.1036A>C (p.Met346Leu)	SRF (M346L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475985	NM_003131.4(SRF):c.985G>C (p.Gly329Arg)	SRF (G125R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2363703	NM_003131.4(SRF):c.1117C>T (p.Arg373Cys)	SRF (R373C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263619	NM_003131.4(SRF):c.770G>C (p.Gly257Ala)	SRF (G257A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 773198	NM_003131.4(SRF):c.138G>A (p.Gly46=)	SRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771714	NM_003131.4(SRF):c.147G>T (p.Ala49=)	SRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765064	NM_003131.4(SRF):c.781-7G>T	SRF	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 759641	NM_003131.4(SRF):c.183G>C (p.Ala61=)	SRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737635	NM_003131.4(SRF):c.495G>A (p.Lys165=)	SRF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725524	NM_003131.4(SRF):c.384C>T (p.Ser128=)	SRF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722258	NM_003131.4(SRF):c.715A>T (p.Thr239Ser)	SRF (T239S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 721741	NM_003131.4(SRF):c.1422G>T (p.Gln474His)	SRF (Q270H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708802	NM_003131.4(SRF):c.1354+8G>C	SRF	Single nucleotide variant (intron variant)	not provided	GBenign
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 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
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 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 32