6210[geneid] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 148632	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3	ABCC1, ABCC6 +78 more	Copy number gain	See cases	GUncertain significance
Select item 153402	GRCh38/hg38 16p12.3(chr16:18759489-19293402)x3	ARL6IP1, CLEC19A +24 more	Copy number gain	See cases	GUncertain significance
Select item 2904148	NM_001019.5(RPS15A):c.240C>T (p.Asp80=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414709	NM_001019.5(RPS15A):c.214-8T>C	RPS15A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903144	NM_001019.5(RPS15A):c.214-21GTT[5]	RPS15A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2867658	NM_001019.5(RPS15A):c.214-21GTT[2]	RPS15A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2746992	NM_001019.5(RPS15A):c.214-21GTT[3]	RPS15A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 617665	NM_001019.5(RPS15A):c.213G>A (p.Lys71=)	RPS15A	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia 20	GPathogenic
Select item 2177617	NM_001019.5(RPS15A):c.183T>A (p.Ile61=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977655	NM_001019.5(RPS15A):c.144C>T (p.Gly48=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1259635	NM_001019.5(RPS15A):c.134-151G>T	RPS15A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2975320	NM_001019.5(RPS15A):c.133+14C>T	RPS15A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963083	NM_001019.5(RPS15A):c.120G>C (p.Val40=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646266	NM_001019.5(RPS15A):c.114C>T (p.Leu38=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646267	NM_001019.5(RPS15A):c.108G>C (p.Arg36=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784941	NM_001019.5(RPS15A):c.106C>A (p.Arg36=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997133	NM_001019.5(RPS15A):c.105C>G (p.Val35=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993763	NM_001019.5(RPS15A):c.61G>A (p.Gly21Ser)	RPS15A (G21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899577	NM_001019.5(RPS15A):c.51C>A (p.Ala17=)	RPS15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2127841	NM_001019.5(RPS15A):c.14A>G (p.Asn5Ser)	RPS15A (N5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290255	NM_001019.5(RPS15A):c.-5-198C>G	RPS15A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2426273	NC_000016.9:g.(?_18794331)_(19089480_?)dup	ARL6IP1, COQ7 +3 more	Duplication	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 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 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
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	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +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: 38