Related gene-specific medical variations for Gene (Select 140711) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048466	NM_015474.4(SAMHD1):c.1747-855_1747-843del	SAMHD1, TLDC2 (R586fs)	Deletion (3 prime UTR variant +2 more)	SAMHD1-related disorder	GLikely benign
Select item 3035616	NM_015474.4(SAMHD1):c.1747-835A>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	SAMHD1-related disorder	GLikely benign
Select item 2824699	NM_015474.4(SAMHD1):c.1776A>G (p.Thr592=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2817519	NM_015474.4(SAMHD1):c.1747-15C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2816002	NM_015474.4(SAMHD1):c.1747-8C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2744938	NM_015474.4(SAMHD1):c.1839A>C (p.Ala613=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2696375	NM_015474.4(SAMHD1):c.1747-18del	SAMHD1, TLDC2	Deletion (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GBenign
Select item 2652304	NM_015474.4(SAMHD1):c.1809A>G (p.Ser603=)	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2164165	NM_015474.4(SAMHD1):c.1876A>G (p.Met626Val)	SAMHD1, TLDC2 (M591V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2159232	NM_015474.4(SAMHD1):c.1841C>A (p.Ser614Tyr)	SAMHD1, TLDC2 (S579Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2146169	NM_015474.4(SAMHD1):c.1825C>T (p.Arg609Cys)	SAMHD1, TLDC2 (R609C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2049337	NM_015474.4(SAMHD1):c.1782A>G (p.Gln594=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2048179	NM_015474.4(SAMHD1):c.1831C>G (p.Arg611Gly)	SAMHD1, TLDC2 (R576G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 2029036	NM_015474.4(SAMHD1):c.1758T>C (p.Val586=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2016910	NM_015474.4(SAMHD1):c.1872C>T (p.Asp624=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 2002246	NM_015474.4(SAMHD1):c.1802G>A (p.Ser601Asn)	SAMHD1, TLDC2 (S601N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1982881	NM_015474.4(SAMHD1):c.1877T>A (p.Met626Lys)	SAMHD1, TLDC2 (M626K +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1958551	NM_015474.4(SAMHD1):c.1827C>G (p.Arg609=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1615061	NM_015474.4(SAMHD1):c.1747-12_1747-9del	SAMHD1, TLDC2	Deletion (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1607939	NM_015474.4(SAMHD1):c.1767A>G (p.Pro589=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1571400	NM_015474.4(SAMHD1):c.1749T>C (p.Asp583=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1548353	NM_015474.4(SAMHD1):c.1747-17dup	SAMHD1, TLDC2	Duplication (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1545690	NM_015474.4(SAMHD1):c.1747-16T>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1488906	NM_015474.4(SAMHD1):c.1785A>T (p.Lys595Asn)	SAMHD1, TLDC2 (K560N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1464496	NM_015474.4(SAMHD1):c.1757T>A (p.Val586Asp)	SAMHD1, TLDC2 (V551D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1398327	NM_015474.4(SAMHD1):c.1780C>T (p.Gln594Ter)	SAMHD1, TLDC2 (Q559* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 1281163	NM_015474.4(SAMHD1):c.1747-190G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1137696	NM_015474.4(SAMHD1):c.1812C>A (p.Val604=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1114447	NM_015474.4(SAMHD1):c.1848C>T (p.Ser616=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1107652	NM_015474.4(SAMHD1):c.1752C>T (p.Gly584=)	TLDC2, SAMHD1	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1092790	NM_015474.4(SAMHD1):c.1860T>C (p.Leu620=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 1058962	NM_015474.4(SAMHD1):c.1862T>A (p.Phe621Tyr)	SAMHD1, TLDC2 (F586Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GUncertain significance
Select item 898844	NM_015474.4(SAMHD1):c.*505T>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 898843	NM_015474.4(SAMHD1):c.*648C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897683	NM_015474.4(SAMHD1):c.*717G>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897682	NM_015474.4(SAMHD1):c.*871G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 897681	NM_015474.4(SAMHD1):c.*882T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 896158	NM_015474.4(SAMHD1):c.*104G>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 896157	NM_015474.4(SAMHD1):c.*120C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GBenign/Likely benign
Select item 836506	NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)	SAMHD1, TLDC2 (D600N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +1 more	GUncertain significance
Select item 798451	NM_015474.4(SAMHD1):c.1833A>G (p.Arg611=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 735488	NM_015474.4(SAMHD1):c.1747-17CT[3]	SAMHD1, TLDC2	Microsatellite (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GLikely benign
Select item 660739	NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)	SAMHD1, TLDC2 (D585N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 636815	NM_015474.4(SAMHD1):c.1868A>G (p.Asp623Gly)	SAMHD1, TLDC2 (D623G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 537757	NM_015474.4(SAMHD1):c.1797C>T (p.Asn599=)	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5	GBenign
Select item 338339	NM_015474.4(SAMHD1):c.*45C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant)	Chilblain lupus 2 +1 more	GBenign
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 338337	NM_015474.4(SAMHD1):c.*71C>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 338336	NM_015474.4(SAMHD1):c.*95T>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338335	NM_015474.4(SAMHD1):c.*240G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GConflicting classifications of pathogenicity
Select item 338334	NM_015474.4(SAMHD1):c.*288A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GBenign
Select item 338333	NM_015474.4(SAMHD1):c.*362G>A	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338332	NM_015474.4(SAMHD1):c.*503A>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338331	NM_015474.4(SAMHD1):c.*536C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338330	NM_015474.4(SAMHD1):c.*629C>T	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +2 more	GBenign
Select item 338329	NM_015474.4(SAMHD1):c.*711A>C	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GUncertain significance
Select item 338328	NM_015474.4(SAMHD1):c.*1008C>G	SAMHD1, TLDC2	Single nucleotide variant (3 prime UTR variant +1 more)	Chilblain lupus 2 +1 more	GBenign
Select item 290248	NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)	SAMHD1, TLDC2 (R611Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Aicardi-Goutieres syndrome 5 +2 more	GConflicting classifications of pathogenicity

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Items: 58