ClinVar for Gene (Select 6625) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3167040	NM_003089.6(SNRNP70):c.935G>T (p.Gly312Val)	SNRNP70 (G303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167039	NM_003089.6(SNRNP70):c.869G>T (p.Arg290Leu)	SNRNP70 (R281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167037	NM_003089.6(SNRNP70):c.1180G>C (p.Gly394Arg)	SNRNP70 (G385R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167036	NM_003089.6(SNRNP70):c.1127G>A (p.Arg376His)	SNRNP70 (R367H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2650233	NM_003089.6(SNRNP70):c.114T>C (p.Tyr38=)	SNRNP70	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623553	NM_003089.6(SNRNP70):c.1264G>A (p.Gly422Ser)	SNRNP70 (G413S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557808	NM_003089.6(SNRNP70):c.985G>C (p.Asp329His)	SNRNP70 (D329H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535588	NM_003089.6(SNRNP70):c.980C>G (p.Pro327Arg)	SNRNP70 (P318R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507895	NM_003089.6(SNRNP70):c.1243A>G (p.Met415Val)	SNRNP70 (M415V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495806	NM_003089.6(SNRNP70):c.778C>G (p.Arg260Gly)	SNRNP70 (R251G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464588	NM_003089.6(SNRNP70):c.1253A>C (p.Glu418Ala)	SNRNP70 (E418A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 2410943	NM_003089.6(SNRNP70):c.287A>G (p.Asn96Ser)	SNRNP70 (N96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395380	NM_003089.6(SNRNP70):c.1231C>G (p.Arg411Gly)	SNRNP70 (R402G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385106	NM_003089.6(SNRNP70):c.1163G>T (p.Gly388Val)	SNRNP70 (G388V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368974	NM_003089.6(SNRNP70):c.686C>T (p.Pro229Leu)	SNRNP70 (P229L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305327	NM_003089.6(SNRNP70):c.1090C>T (p.Arg364Trp)	SNRNP70 (R364W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298799	NM_003089.6(SNRNP70):c.1196A>C (p.Gln399Pro)	SNRNP70 (Q390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280403	NM_003089.6(SNRNP70):c.934G>A (p.Gly312Ser)	SNRNP70 (G312S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237596	NM_003089.6(SNRNP70):c.995C>T (p.Pro332Leu)	SNRNP70 (P332L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215958	NM_003089.6(SNRNP70):c.985G>T (p.Asp329Tyr)	SNRNP70 (D329Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1174097	NM_003089.6(SNRNP70):c.772C>T (p.Arg258Cys)	SNRNP70 (R249C +1 more)	Single nucleotide variant (missense variant)	Global developmental delay	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33