"Clinical Genetics, Academic Medical Center"[submitter] AND "C11orf65" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128459	NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 133627	NM_000051.4(ATM):c.5948= (p.Ser1983=)	ATM, C11orf65	Single nucleotide variant (synonymous variant +2 more)	Ataxia-telangiectasia syndrome +2 more	GBenign
Select item 133628	NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	ATM, C11orf65 (I2030V)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +6 more	GBenign/Likely benign
Select item 140766	NM_000051.4(ATM):c.6095+15T>C	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 522241	NM_000051.4(ATM):c.6347+31del	ATM, C11orf65	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 140762	NM_000051.4(ATM):c.6572+12G>T	ATM, C11orf65	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign
Select item 1252304	NM_000051.4(ATM):c.6573-42del	ATM, C11orf65	Deletion (intron variant)	not provided +1 more	GBenign
Select item 127430	NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	ATM, C11orf65 (L2307F)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 127450	NM_000051.4(ATM):c.7788+8G>T	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 229826	NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln)	ATM, C11orf65 (R2598Q)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome +2 more	GUncertain significance
Select item 185832	NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)	ATM, C11orf65 (R2719C)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 135782	NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)	C11orf65, ATM	Single nucleotide variant (synonymous variant +1 more)	Ataxia-telangiectasia syndrome +4 more	GBenign/Likely benign
Select item 132696	NM_000051.4(ATM):c.8786+8A>C	C11orf65, ATM	Single nucleotide variant (intron variant)	Ataxia-telangiectasia syndrome +5 more	GBenign/Likely benign