ClinVar for Gene (Select 27165) - 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 3281647	NM_013267.4(GLS2):c.1685A>T (p.Gln562Leu)	GLS2, SPRYD4 (Q286L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3281646	NM_013267.4(GLS2):c.1178T>G (p.Met393Arg)	GLS2, SPRYD4 (M128R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3100354	NM_013267.4(GLS2):c.959G>A (p.Arg320Gln)	GLS2, SPRYD4 (R320Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100353	NM_013267.4(GLS2):c.698T>G (p.Leu233Arg)	GLS2, SPRYD4 (L233R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3100352	NM_013267.4(GLS2):c.496C>T (p.Arg166Cys)	GLS2, SPRYD4 (R166C)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3100351	NM_013267.4(GLS2):c.257G>A (p.Arg86Gln)	GLS2 (R86Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3100350	NM_013267.4(GLS2):c.1448G>A (p.Arg483Gln)	GLS2, SPRYD4 (R207Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2643097	NM_013267.4(GLS2):c.1101C>T (p.Leu367=)	GLS2, SPRYD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622687	NM_013267.4(GLS2):c.757A>C (p.Lys253Gln)	GLS2, SPRYD4 (K253Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2622686	NM_013267.4(GLS2):c.756C>G (p.Asn252Lys)	GLS2, SPRYD4 (N252K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2603321	NM_013267.4(GLS2):c.910A>G (p.Met304Val)	GLS2, SPRYD4 (M39V +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2555442	NM_013267.4(GLS2):c.1411C>T (p.Arg471Trp)	GLS2, SPRYD4 (R206W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553978	NM_013267.4(GLS2):c.1589G>A (p.Gly530Glu)	GLS2, SPRYD4 (G254E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551662	NM_013267.4(GLS2):c.683T>C (p.Ile228Thr)	GLS2, SPRYD4 (I228T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2373126	NM_013267.4(GLS2):c.973G>A (p.Gly325Ser)	GLS2, SPRYD4 (G325S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327220	NM_013267.4(GLS2):c.17C>T (p.Ala6Val)	GLS2, LOC130008086 (A6V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324221	NM_013267.4(GLS2):c.1258G>A (p.Ala420Thr)	GLS2, SPRYD4 (A155T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291032	NM_013267.4(GLS2):c.898G>A (p.Gly300Arg)	GLS2, SPRYD4 (G300R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2232866	NM_013267.4(GLS2):c.1084G>A (p.Val362Ile)	GLS2, SPRYD4 (V97I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228262	NM_013267.4(GLS2):c.200G>A (p.Gly67Asp)	GLS2 (G67D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2223027	NM_013267.4(GLS2):c.389G>A (p.Arg130Gln)	GLS2 (R130Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214352	NM_013267.4(GLS2):c.1741C>T (p.Leu581Phe)	GLS2, SPRYD4 (L305F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 782561	NM_013267.4(GLS2):c.1011G>A (p.Gly337=)	GLS2, SPRYD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 681506	NM_013267.4(GLS2):c.929+3A>G	GLS2, SPRYD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	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