ClinVar for Gene (Select 28972) - ClinVar

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

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322035	NM_014041.5(SPCS1):c.296C>G (p.Ala99Gly)	SPCS1 (A99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322034	NM_014041.5(SPCS1):c.-53C>T	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3168709	NM_014041.3(SPCS1):c.47C>A (p.Ser16Tyr)	SPCS1 (S16Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168707	NM_014041.5(SPCS1):c.244G>A (p.Glu82Lys)	SPCS1 (E82K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3168706	NM_014041.5(SPCS1):c.-74C>A	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3168705	NM_014041.5(SPCS1):c.-82A>C	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3168704	NM_014041.5(SPCS1):c.-96C>G	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2618126	NM_014041.5(SPCS1):c.251G>A (p.Ser84Asn)	SPCS1 (S84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617082	NM_014041.5(SPCS1):c.-68T>C	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2470290	NM_014041.5(SPCS1):c.163G>A (p.Gly55Arg)	SPCS1 (G55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2310997	NM_014041.5(SPCS1):c.-123G>A	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2237077	NM_014041.5(SPCS1):c.-23G>A	SPCS1	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 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: 23