ClinVar for Gene (Select 88745) - ClinVar

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Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315479	NM_033112.4(RRP36):c.64G>A (p.Ala22Thr)	RRP36 (A22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315478	NM_033112.4(RRP36):c.755G>T (p.Arg252Ile)	RRP36 (R247I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315477	NM_033112.4(RRP36):c.14A>G (p.Asn5Ser)	RRP36 (N5S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156526	NM_033112.4(RRP36):c.679A>G (p.Lys227Glu)	RRP36 (K222E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156525	NM_033112.4(RRP36):c.652C>T (p.Arg218Cys)	RRP36 (R218C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156524	NM_033112.4(RRP36):c.521G>A (p.Arg174Gln)	RRP36 (R169Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156523	NM_033112.4(RRP36):c.496G>C (p.Glu166Gln)	RRP36 (E166Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156522	NM_033112.4(RRP36):c.47C>A (p.Ala16Asp)	RRP36 (A16D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156521	NM_033112.4(RRP36):c.376T>A (p.Ser126Thr)	RRP36 (S126T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156520	NM_033112.4(RRP36):c.320G>A (p.Arg107His)	RRP36 (R107H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156519	NM_033112.4(RRP36):c.265G>A (p.Ala89Thr)	RRP36 (A89T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156518	NM_033112.4(RRP36):c.247A>G (p.Ile83Val)	RRP36 (I83V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3156517	NM_033112.4(RRP36):c.142A>G (p.Met48Val)	RRP36 (M48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604564	NM_033112.4(RRP36):c.176A>G (p.Gln59Arg)	RRP36 (Q59R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548500	NM_033112.4(RRP36):c.92G>T (p.Gly31Val)	RRP36 (G31V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513012	NM_033112.4(RRP36):c.769A>T (p.Ser257Cys)	RRP36 (S257C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465792	NM_033112.4(RRP36):c.146C>T (p.Ser49Leu)	RRP36 (S49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2397761	NM_033112.4(RRP36):c.508C>G (p.Gln170Glu)	RRP36 (Q170E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315346	NM_033112.4(RRP36):c.349G>A (p.Ala117Thr)	RRP36 (A117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312751	NM_033112.4(RRP36):c.92G>A (p.Gly31Asp)	RRP36 (G31D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299161	NM_033112.4(RRP36):c.468G>C (p.Leu156Phe)	RRP36 (L151F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298579	NM_033112.4(RRP36):c.749A>G (p.Asp250Gly)	RRP36 (D250G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297863	NM_033112.4(RRP36):c.212G>C (p.Gly71Ala)	RRP36 (G71A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295639	NM_033112.4(RRP36):c.683A>G (p.Glu228Gly)	RRP36 (E223G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279409	NM_033112.4(RRP36):c.274C>T (p.His92Tyr)	RRP36 (H92Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261841	NM_033112.4(RRP36):c.362G>A (p.Arg121His)	RRP36 (R121H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223513	NM_033112.4(RRP36):c.191C>T (p.Thr64Met)	RRP36 (T64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206508	NM_033112.4(RRP36):c.423G>C (p.Leu141Phe)	RRP36 (L141F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1072088	NC_000006.11:g.(?_42928506)_(43737486_?)del	DLK2, ABCC10 +27 more	Deletion	not provided	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC132089395, LOC132089396 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 40