ClinVar for Gene (Select 283377) - ClinVar

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Links from Gene

Items: 31

	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 3169429	NM_207344.4(SPRYD4):c.512C>T (p.Ser171Phe)	SPRYD4 (S171F)	Single nucleotide variant (missense variant)	not specified	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 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 2460024	NM_207344.4(SPRYD4):c.359G>A (p.Arg120His)	LOC130008084, SPRYD4 (R120H)	Single nucleotide variant (missense variant)	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 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 2252279	NM_207344.4(SPRYD4):c.106G>A (p.Glu36Lys)	SPRYD4 (E36K)	Single nucleotide variant (missense variant)	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 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	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31