ClinVar for Gene (Select 219970) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281680	NM_145016.4(GLYATL2):c.514C>T (p.His172Tyr)	GLYATL2 (H172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281679	NM_145016.4(GLYATL2):c.125T>G (p.Met42Arg)	GLYATL2 (M42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100421	NM_145016.4(GLYATL2):c.849G>T (p.Trp283Cys)	GLYATL2 (W283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100420	NM_145016.4(GLYATL2):c.828T>A (p.Phe276Leu)	GLYATL2 (F276L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100419	NM_145016.4(GLYATL2):c.800G>T (p.Ser267Ile)	GLYATL2 (S267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100418	NM_145016.4(GLYATL2):c.79G>A (p.Val27Ile)	GLYATL2 (V27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100417	NM_145016.4(GLYATL2):c.714G>A (p.Met238Ile)	GLYATL2 (M238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100415	NM_145016.4(GLYATL2):c.38T>C (p.Leu13Pro)	GLYATL2 (L13P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100414	NM_145016.4(GLYATL2):c.383T>C (p.Met128Thr)	GLYATL2 (M128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100413	NM_145016.4(GLYATL2):c.349G>T (p.Val117Phe)	GLYATL2 (V117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100412	NM_145016.4(GLYATL2):c.281T>C (p.Val94Ala)	GLYATL2 (V94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2609703	NM_145016.4(GLYATL2):c.205G>A (p.Asp69Asn)	GLYATL2 (D69N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595748	NM_145016.4(GLYATL2):c.277A>T (p.Asn93Tyr)	GLYATL2 (N93Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548775	NM_145016.4(GLYATL2):c.598C>G (p.Leu200Val)	GLYATL2 (L200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533021	NM_145016.4(GLYATL2):c.442A>C (p.Lys148Gln)	GLYATL2 (K148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386705	NM_145016.4(GLYATL2):c.105A>C (p.Lys35Asn)	GLYATL2 (K35N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363997	NM_145016.4(GLYATL2):c.124A>C (p.Met42Leu)	GLYATL2 (M42L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2336310	NM_145016.4(GLYATL2):c.329T>G (p.Leu110Trp)	GLYATL2 (L110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278769	NM_145016.4(GLYATL2):c.847T>C (p.Trp283Arg)	GLYATL2 (W283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272731	NM_145016.4(GLYATL2):c.403C>A (p.Pro135Thr)	GLYATL2 (P135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215053	NM_145016.4(GLYATL2):c.533A>G (p.Glu178Gly)	GLYATL2 (E178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980952	GRCh37/hg19 11q12.1(chr11:58602498-59091934)x3	DTX4, FAM111A +4 more	Copy number gain	not provided	GUncertain significance
Select item 972998	GRCh37/hg19 11q12.1(chr11:58237819-58800374)x3	CNTF, GLYAT +5 more	Copy number gain	not provided	Gnot provided
Select item 563881	GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3	APLNR, BTBD18 +95 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 154690	GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3	APLNR, BTBD18 +147 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32