RSL1D1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 545184	Single allele	BCAR4, CPPED1 +85 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2295595	NM_015659.3(RSL1D1):c.1434A>C (p.Lys478Asn)	RSL1D1 (K478N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315542	NM_015659.3(RSL1D1):c.1432A>C (p.Lys478Gln)	RSL1D1 (K478Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156670	NM_015659.3(RSL1D1):c.1409T>C (p.Val470Ala)	RSL1D1 (V470A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156669	NM_015659.3(RSL1D1):c.1295C>G (p.Pro432Arg)	RSL1D1 (P432R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368750	NM_015659.3(RSL1D1):c.1208G>A (p.Arg403His)	RSL1D1 (R403H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156668	NM_015659.3(RSL1D1):c.1195C>G (p.Pro399Ala)	RSL1D1 (P399A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531919	NM_015659.3(RSL1D1):c.1187G>T (p.Ser396Ile)	RSL1D1 (S396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156667	NM_015659.3(RSL1D1):c.1177C>T (p.Pro393Ser)	RSL1D1 (P393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276221	NM_015659.3(RSL1D1):c.1135G>C (p.Glu379Gln)	RSL1D1 (E379Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156666	NM_015659.3(RSL1D1):c.1120A>C (p.Lys374Gln)	RSL1D1 (K374Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390696	NM_015659.3(RSL1D1):c.1042C>T (p.Arg348Cys)	RSL1D1 (R348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315543	NM_015659.3(RSL1D1):c.914A>G (p.Lys305Arg)	RSL1D1 (K305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315544	NM_015659.3(RSL1D1):c.826A>G (p.Lys276Glu)	RSL1D1 (K276E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315545	NM_015659.3(RSL1D1):c.773C>G (p.Ser258Trp)	RSL1D1 (S258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326014	NM_015659.3(RSL1D1):c.734G>T (p.Trp245Leu)	RSL1D1 (W245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156673	NM_015659.3(RSL1D1):c.731A>G (p.Lys244Arg)	RSL1D1 (K244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315541	NM_015659.3(RSL1D1):c.602C>T (p.Thr201Ile)	RSL1D1 (T201I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253548	NM_015659.3(RSL1D1):c.592A>T (p.Ile198Leu)	RSL1D1 (I198L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277630	NM_015659.3(RSL1D1):c.538C>T (p.Pro180Ser)	RSL1D1 (P180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156672	NM_015659.3(RSL1D1):c.496C>T (p.Pro166Ser)	RSL1D1 (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646231	NM_015659.3(RSL1D1):c.384+7A>T	RSL1D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2219671	NM_015659.3(RSL1D1):c.376G>A (p.Val126Ile)	RSL1D1 (V126I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619444	NM_015659.3(RSL1D1):c.269C>T (p.Ser90Leu)	RSL1D1 (S90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346017	NM_015659.3(RSL1D1):c.248C>T (p.Thr83Ile)	RSL1D1 (T83I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390960	NM_015659.3(RSL1D1):c.247A>G (p.Thr83Ala)	RSL1D1 (T83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156671	NM_015659.3(RSL1D1):c.182A>G (p.Asn61Ser)	RSL1D1 (N61S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410731	NM_015659.3(RSL1D1):c.141C>G (p.Cys47Trp)	RSL1D1 (C47W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248663	NM_015659.3(RSL1D1):c.50C>T (p.Thr17Ile)	LOC126862289, RSL1D1 (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471611	NM_015659.3(RSL1D1):c.23C>T (p.Ser8Leu)	LOC126862289, RSL1D1 (S8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685557	GRCh37/hg19 16p13.13-13.12(chr16:11444572-12722447)x1	BCAR4, GSPT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 2684787	GRCh37/hg19 16p13.13(chr16:11822960-12056945)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684785	GRCh37/hg19 16p13.13(chr16:11466110-12065032)x3	BCAR4, GSPT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1809030	GRCh37/hg19 16p13.2-13.13(chr16:10423631-12176517)x3	CIITA, ATF7IP2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1526502	GRCh37/hg19 16p13.13-13.12(chr16:11364838-13592668)	SNN, SNX29 +13 more	Copy number gain	not specified	GUncertain significance
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 685893	GRCh37/hg19 16p13.13-13.12(chr16:11922647-12621101)x3	BCAR4, GSPT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441858	GRCh37/hg19 16p13.2-13.13(chr16:9631472-12128275)x3	ATF7IP2, BCAR4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 53