6138[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 57979	GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3	EFHB, KAT2B +115 more	Copy number gain	See cases	GPathogenic
Select item 147469	GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3	LINC00691, LOC121725135 +34 more	Copy number gain	See cases	GUncertain significance
Select item 1194728	NM_002948.5(RPL15):c.-10-118A>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1199763	NM_002948.5(RPL15):c.-10-84T>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1336971	NM_002948.5(RPL15):c.-1G>C	LOC126806629, NKIRAS1 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1107700	NM_002948.5(RPL15):c.18C>T (p.Tyr6=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662347	NM_002948.5(RPL15):c.23A>C (p.Gln8Pro)	NKIRAS1, RPL15 (Q8P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2502337	NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)	NKIRAS1, RPL15 (L10P)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 2886650	NM_002948.5(RPL15):c.45G>A (p.Gln15=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2183188	NM_002948.5(RPL15):c.47C>G (p.Ser16Cys)	NKIRAS1, RPL15 (S16C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747016	NM_002948.5(RPL15):c.48T>A (p.Ser16=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1368290	NM_002948.5(RPL15):c.55A>G (p.Met19Val)	NKIRAS1, RPL15 (M19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884137	NM_002948.5(RPL15):c.75C>T (p.Val25=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 436551	NM_002948.5(RPL15):c.75C>G (p.Val25=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2502336	NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)	NKIRAS1, RPL15 (Q29*)	Single nucleotide variant (nonsense +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 2417517	NM_002948.5(RPL15):c.85C>A (p.Gln29Lys)	NKIRAS1, RPL15 (Q29K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305196	NM_002948.5(RPL15):c.87G>T (p.Gln29His)	NKIRAS1, RPL15 (Q29H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443245	NM_002948.5(RPL15):c.101C>T (p.Ser34Phe)	NKIRAS1, RPL15 (S34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1306432	NM_002948.5(RPL15):c.103G>A (p.Ala35Thr)	NKIRAS1, RPL15 (A35T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3156040	NM_002948.5(RPL15):c.118C>T (p.Pro40Ser)	NKIRAS1, RPL15 (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1985307	NM_002948.5(RPL15):c.120C>T (p.Pro40=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787257	NM_002948.5(RPL15):c.122G>T (p.Arg41Leu)	NKIRAS1, RPL15 (R41L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1979895	NM_002948.5(RPL15):c.124C>T (p.Pro42Ser)	NKIRAS1, RPL15 (P42S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1709989	NM_002948.5(RPL15):c.130del (p.Arg44fs)	NKIRAS1, RPL15 (R44fs)	Deletion (frameshift variant +1 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 1400084	NM_002948.5(RPL15):c.128C>T (p.Thr43Ile)	NKIRAS1, RPL15 (T43I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171701	NM_002948.5(RPL15):c.138T>G (p.Asp46Glu)	NKIRAS1, RPL15 (D46E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477433	NM_002948.5(RPL15):c.145C>T (p.Arg49Cys)	NKIRAS1, RPL15 (R49C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3156041	NM_002948.5(RPL15):c.146G>A (p.Arg49His)	NKIRAS1, RPL15 (R49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2725412	NM_002948.5(RPL15):c.151C>G (p.Leu51Val)	NKIRAS1, RPL15 (L51V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2183537	NM_002948.5(RPL15):c.156C>T (p.Gly52=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2672935	NM_002948.5(RPL15):c.165_172+16del	NKIRAS1, RPL15	Deletion (intron variant +1 more)	not provided	GPathogenic
Select item 3014345	NM_002948.5(RPL15):c.165C>T (p.Ala55=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1521962	NM_002948.5(RPL15):c.166A>G (p.Lys56Glu)	NKIRAS1, RPL15 (K56E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1638320	NM_002948.5(RPL15):c.168G>A (p.Lys56=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2863486	NM_002948.5(RPL15):c.171A>G (p.Gln57=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 626158	NM_002948.5(RPL15):c.172+5G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 12 +1 more	GConflicting classifications of pathogenicity
Select item 2038642	NM_002948.5(RPL15):c.172+7G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1535041	NM_002948.5(RPL15):c.172+15G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706800	NM_002948.5(RPL15):c.173-50G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2425077	NM_002948.5(RPL15):c.173-19_173-18delinsTT	NKIRAS1, RPL15	Indel (intron variant)	not provided	GUncertain significance
Select item 1639733	NM_002948.5(RPL15):c.173-18G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591061	NM_002948.5(RPL15):c.173-10T>C	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1169857	NM_002948.5(RPL15):c.173-4G>A	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600640	NM_002948.5(RPL15):c.177C>T (p.Tyr59=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2601092	NM_002948.5(RPL15):c.178G>A (p.Val60Ile)	NKIRAS1, RPL15 (V60I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2182668	NM_002948.5(RPL15):c.180T>C (p.Val60=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3359767	NM_002948.5(RPL15):c.182T>C (p.Ile61Thr)	NKIRAS1, RPL15 (I61T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3367761	NM_002948.5(RPL15):c.194G>A (p.Arg65His)	NKIRAS1, RPL15 (R65H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172307	NM_002948.5(RPL15):c.196G>A (p.Val66Ile)	NKIRAS1, RPL15 (V66I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3315179	NM_002948.5(RPL15):c.200G>A (p.Arg67His)	NKIRAS1, RPL15 (R67H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1380966	NM_002948.5(RPL15):c.211C>T (p.Arg71Ter)	NKIRAS1, RPL15 (R71*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2013579	NM_002948.5(RPL15):c.212G>A (p.Arg71Gln)	NKIRAS1, RPL15 (R71Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2837936	NM_002948.5(RPL15):c.215A>G (p.Lys72Arg)	NKIRAS1, RPL15 (K72R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2176973	NM_002948.5(RPL15):c.217C>T (p.Arg73Cys)	NKIRAS1, RPL15 (R73C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361369	NM_002948.5(RPL15):c.227C>T (p.Pro76Leu)	NKIRAS1, RPL15 (P76L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2171261	NM_002948.5(RPL15):c.240T>A (p.Thr80=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2502335	NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)	NKIRAS1, RPL15 (Y81*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 788484	NM_002948.5(RPL15):c.243C>T (p.Tyr81=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1427182	NM_002948.5(RPL15):c.244G>A (p.Gly82Ser)	NKIRAS1, RPL15 (G82S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2192324	NM_002948.5(RPL15):c.257A>G (p.His86Arg)	NKIRAS1, RPL15 (H86R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2886255	NM_002948.5(RPL15):c.274C>T (p.Leu92=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1045908	NM_002948.5(RPL15):c.274C>A (p.Leu92Ile)	NKIRAS1, RPL15 (L92I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 780028	NM_002948.5(RPL15):c.282T>C (p.Phe94=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1150200	NM_002948.5(RPL15):c.294T>G (p.Leu98=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818587	NM_002948.5(RPL15):c.297G>T (p.Gln99His)	NKIRAS1, RPL15 (Q99H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812478	NM_002948.5(RPL15):c.304G>C (p.Ala102Pro)	NKIRAS1, RPL15 (A102P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2902581	NM_002948.5(RPL15):c.309+12T>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516587	NM_002948.5(RPL15):c.309+13G>C	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2850583	NM_002948.5(RPL15):c.309+15G>C	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 88980	NM_001253384.2(RPL15):c.309+91_361-539del	NKIRAS1, RPL15	Deletion (intron variant +2 more)	Diamond-Blackfan anemia 12	GPathogenic
Select item 2428076	NM_002948.5(RPL15):c.310-18C>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047633	NM_002948.5(RPL15):c.310-7A>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	RPL15-related disorder	GLikely benign
Select item 2171973	NM_002948.5(RPL15):c.310-5_310-3del	NKIRAS1, RPL15	Deletion (intron variant)	not provided	GLikely benign
Select item 1616727	NM_002948.5(RPL15):c.310-4C>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280195	NM_002948.5(RPL15):c.310-2A>G	NKIRAS1, RPL15	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 870411	NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)	NKIRAS1, RPL15 (R105L)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 12	GLikely pathogenic
Select item 1337766	NM_002948.5(RPL15):c.320G>C (p.Gly107Ala)	NKIRAS1, RPL15 (G107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2981104	NM_002948.5(RPL15):c.322C>A (p.Arg108Ser)	NKIRAS1, RPL15 (R108S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415523	NM_002948.5(RPL15):c.323G>A (p.Arg108His)	NKIRAS1, RPL15 (R108H)	Single nucleotide variant (missense variant +1 more)	RPL15-related disorder +1 more	GUncertain significance
Select item 1909586	NM_002948.5(RPL15):c.324C>T (p.Arg108=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172415	NM_002948.5(RPL15):c.330T>C (p.Cys110=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2172621	NM_002948.5(RPL15):c.337C>T (p.Leu113=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883831	NM_002948.5(RPL15):c.339G>C (p.Leu113=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2184273	NM_002948.5(RPL15):c.341G>C (p.Arg114Thr)	NKIRAS1, RPL15 (R114T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1383127	NM_002948.5(RPL15):c.349A>G (p.Asn117Asp)	NKIRAS1, RPL15 (N117D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185578	NM_002948.5(RPL15):c.357C>T (p.Tyr119=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1111197	NM_002948.5(RPL15):c.363T>C (p.Val121=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2191924	NM_002948.5(RPL15):c.364G>T (p.Gly122Cys)	NKIRAS1, RPL15 (G122C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2883802	NM_002948.5(RPL15):c.381C>T (p.Tyr127=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2607964	NM_002948.5(RPL15):c.383A>C (p.Lys128Thr)	NKIRAS1, RPL15 (K128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1430409	NM_002948.5(RPL15):c.383A>G (p.Lys128Arg)	NKIRAS1, RPL15 (K128R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1941329	NM_002948.5(RPL15):c.386T>A (p.Phe129Tyr)	NKIRAS1, RPL15 (F129Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190966	NM_002948.5(RPL15):c.396T>C (p.Val132=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894667	NM_002948.5(RPL15):c.402C>T (p.Leu134=)	NKIRAS1, RPL15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2185933	NM_002948.5(RPL15):c.405T>G (p.Ile135Met)	NKIRAS1, RPL15 (I135M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2798464	NM_002948.5(RPL15):c.427A>G (p.Arg143Gly)	NKIRAS1, RPL15 (R143G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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