"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SAMHD1"[ge - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 338338	NM_080628.3(TLDC2):c.*28T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant)	Aicardi-Goutieres syndrome 5 +2 more	GBenign/Likely benign
Select item 2652304	NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 741733	NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)	SAMHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1094043	NM_015474.4(SAMHD1):c.1623G>A (p.Leu541=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GLikely benign
Select item 338342	NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)	SAMHD1 (R531S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1494095	NM_015474.4(SAMHD1):c.1583G>A (p.Arg528Lys)	SAMHD1 (R528K)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 1335460	NM_015474.4(SAMHD1):c.1520A>G (p.Tyr507Cys)	SAMHD1 (Y507C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 809248	NM_015474.4(SAMHD1):c.1352G>A (p.Arg451His)	SAMHD1 (R451H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 785741	NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)	SAMHD1	Single nucleotide variant (synonymous variant)	SAMHD1-related condition +2 more	GLikely benign
Select item 794959	NM_015474.4(SAMHD1):c.1242C>T (p.Asp414=)	SAMHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 896227	NM_015474.4(SAMHD1):c.1015C>T (p.Arg339Cys)	SAMHD1 (R339C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 966467	NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)	SAMHD1 (R333H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 3027021	NM_015474.4(SAMHD1):c.853-2A>G	SAMHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1546655	NM_015474.4(SAMHD1):c.786A>G (p.Glu262=)	SAMHD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 800933	NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)	SAMHD1 (M216fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1500266	NM_015474.4(SAMHD1):c.626-1G>C	SAMHD1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 946301	NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GLikely benign
Select item 872202	NM_015474.4(SAMHD1):c.434G>C (p.Arg145Pro)	SAMHD1 (R145P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2176908	NM_015474.4(SAMHD1):c.415C>T (p.Pro139Ser)	SAMHD1 (P139S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 425269	NM_015474.4(SAMHD1):c.385C>G (p.His129Asp)	SAMHD1 (H129D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026136	NM_015474.4(SAMHD1):c.317G>A (p.Arg106Gln)	SAMHD1 (R106Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1538111	NM_015474.4(SAMHD1):c.243T>G (p.Leu81=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +1 more	GLikely benign
Select item 338349	NM_015474.4(SAMHD1):c.195G>T (p.Leu65=)	SAMHD1	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 374638	NM_015474.4(SAMHD1):c.27del (p.Ser10fs)	SAMHD1 (S10fs)	Deletion (frameshift variant)	not provided	GUncertain significance

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Items: 24