Related gene-specific medical variations for Gene (Select 79621) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244198	NC_000013.10:g.(?_51503591)_(51530610_?)del	RNASEH2B	Deletion	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 3244197	NC_000013.10:g.(?_51484213)_(51528141_?)del	RNASEH2B	Deletion	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 3244196	NC_000013.10:g.(?_51484213)_(51530610_?)del	RNASEH2B	Deletion	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 3065534	NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)	RNASEH2B (E273V)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2977557	NM_024570.4(RNASEH2B):c.21C>T (p.Cys7=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2956038	NM_024570.4(RNASEH2B):c.64+14C>T	RNASEH2B-AS1, LOC130009810 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2832181	NM_024570.4(RNASEH2B):c.12C>G (p.Gly4=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2819722	NM_024570.4(RNASEH2B):c.64+11G>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2815274	NM_024570.4(RNASEH2B):c.64+16C>G	RNASEH2B-AS1, LOC130009810 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2812531	NM_024570.4(RNASEH2B):c.15G>T (p.Val5=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2752788	NM_024570.4(RNASEH2B):c.6C>G (p.Ala2=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2745234	NM_024570.4(RNASEH2B):c.64+13G>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2719858	NM_024570.4(RNASEH2B):c.9T>G (p.Ala3=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2708280	NM_024570.4(RNASEH2B):c.47_48dup (p.Val17fs)	LOC130009810, RNASEH2B +1 more (V17fs)	Duplication (frameshift variant)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 2581245	NM_024570.4(RNASEH2B):c.28G>C (p.Gly10Arg)	LOC130009810, RNASEH2B +1 more (G10R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573006	NM_024570.4(RNASEH2B):c.64+2_64+6del	LOC130009810, RNASEH2B +1 more	Deletion (splice donor variant)	Aicardi-Goutieres syndrome 2	GLikely pathogenic
Select item 2430010	NM_024570.4(RNASEH2B):c.845C>T (p.Ala282Val)	RNASEH2B (A282V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2116662	NM_024570.4(RNASEH2B):c.29G>C (p.Gly10Ala)	LOC130009810, RNASEH2B +1 more (G10A)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2106018	NM_024570.4(RNASEH2B):c.26A>T (p.Asp9Val)	LOC130009810, RNASEH2B +1 more (D9V)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2103939	NM_024570.4(RNASEH2B):c.16G>T (p.Asp6Tyr)	LOC130009810, RNASEH2B +1 more (D6Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2103291	NM_024570.4(RNASEH2B):c.64+3A>G	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 2016968	NM_024570.4(RNASEH2B):c.64+11G>A	RNASEH2B-AS1, LOC130009810 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 2002103	NM_024570.4(RNASEH2B):c.64+7_64+8del	LOC130009810, RNASEH2B +1 more	Microsatellite (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1931386	NM_024570.4(RNASEH2B):c.31G>T (p.Val11Phe)	LOC130009810, RNASEH2B +1 more (V11F)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1673652	NM_024570.4(RNASEH2B):c.64+16C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1671010	NM_024570.4(RNASEH2B):c.55C>T (p.Leu19=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1642038	NM_024570.4(RNASEH2B):c.30G>A (p.Gly10=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1608000	NM_024570.4(RNASEH2B):c.39C>T (p.Ala13=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1576376	NM_024570.4(RNASEH2B):c.18C>T (p.Asp6=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 1537604	NM_024570.4(RNASEH2B):c.54C>T (p.Phe18=)	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (synonymous variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1512047	NM_024570.4(RNASEH2B):c.4G>C (p.Ala2Pro)	LOC130009810, RNASEH2B +1 more (A2P)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1471044	NM_024570.4(RNASEH2B):c.25G>A (p.Asp9Asn)	RNASEH2B-AS1, LOC130009810 +1 more (D9N)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1467438	NM_024570.4(RNASEH2B):c.29G>A (p.Gly10Glu)	LOC130009810, RNASEH2B +1 more (G10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1451439	NM_024570.4(RNASEH2B):c.4del (p.Ala2fs)	LOC130009810, RNASEH2B +1 more (A2fs)	Deletion (frameshift variant +1 more)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 1442549	NM_024570.4(RNASEH2B):c.46C>T (p.His16Tyr)	LOC130009810, RNASEH2B +1 more (H16Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1420289	NM_024570.4(RNASEH2B):c.63del (p.Glu22fs)	LOC130009810, RNASEH2B +1 more (E22fs)	Deletion (frameshift variant)	Aicardi-Goutieres syndrome 2	GPathogenic
Select item 1417306	NM_024570.4(RNASEH2B):c.64+17G>A	RNASEH2B, RNASEH2B-AS1 +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 1385763	NM_024570.4(RNASEH2B):c.35G>A (p.Gly12Asp)	LOC130009810, RNASEH2B +1 more (G12D)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1246133	NM_024570.4(RNASEH2B):c.64+80C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1230657	NM_024570.4(RNASEH2B):c.64+169C>T	RNASEH2B, RNASEH2B-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1041906	NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His)	LOC130009810, RNASEH2B +1 more (D9H)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 1027230	NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile)	LOC130009810, RNASEH2B +1 more (F18I)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2 +1 more	GUncertain significance
Select item 952190	NM_024570.4(RNASEH2B):c.41G>A (p.Arg14Gln)	LOC130009810, RNASEH2B +1 more (R14Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 883521	NM_001142279.2(RNASEH2B):c.-293A>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 883520	NM_001142279.2(RNASEH2B):c.-294C>T	RNASEH2B-AS1, LOC130009809 +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 881149	NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr)	LOC130009810, RNASEH2B +1 more (C7Y)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 881148	NM_024570.4(RNASEH2B):c.-145G>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 871584	NM_024570.4(RNASEH2B):c.634G>A (p.Ala212Thr)	RNASEH2B (A212T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 871583	NM_024570.4(RNASEH2B):c.37_43del (p.Ala13fs)	LOC130009810, RNASEH2B +1 more (A13fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 704546	NM_024570.4(RNASEH2B):c.64+8C>T	LOC130009810, RNASEH2B +1 more	Single nucleotide variant (intron variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 661979	NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr)	LOC130009810, RNASEH2B +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Aicardi-Goutieres syndrome 2	GConflicting classifications of pathogenicity
Select item 540250	NM_024570.4(RNASEH2B):c.40C>T (p.Arg14Trp)	LOC130009810, RNASEH2B +1 more (R14W)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 432925	NM_024570.4(RNASEH2B):c.58G>C (p.Val20Leu)	RNASEH2B, RNASEH2B-AS1 +1 more (V20L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312328	NM_024570.4(RNASEH2B):c.-107G>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312327	NM_024570.4(RNASEH2B):c.-112C>T	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 312326	NM_024570.4(RNASEH2B):c.-117C>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GLikely benign
Select item 312325	NM_024570.4(RNASEH2B):c.-181G>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312324	NM_024570.4(RNASEH2B):c.-210G>C	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2 +1 more	GBenign/Likely benign
Select item 312323	NM_024570.4(RNASEH2B):c.-228C>A	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 312322	NM_001142279.2(RNASEH2B):c.-313C>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi Goutieres syndrome	GUncertain significance
Select item 312321	NM_001142279.2(RNASEH2B):c.-399C>G	LOC130009809, RNASEH2B +1 more	Single nucleotide variant (5 prime UTR variant)	Aicardi-Goutieres syndrome 2	GUncertain significance
Select item 280090	NM_024570.4(RNASEH2B):c.3G>A (p.Met1Ile)	LOC130009810, RNASEH2B +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic

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Items: 62