4849[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145584	GRCh38/hg38 6p12.3-11.2(chr6:50971182-57432788)x1	BAG2, BEND6 +171 more	Copy number loss	See cases	GPathogenic
Select item 1809510	GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2	LINC01564, LINC03001 +88 more	Copy number loss	Orofacial cleft	GUncertain significance
Select item 148002	GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3	BAG2, BEND6 +147 more	Copy number gain	See cases	GPathogenic
Select item 58429	GRCh38/hg38 6p12.1(chr6:54263893-56826637)x1	BMP5, COL21A1 +18 more	Copy number loss	See cases	GPathogenic
Select item 3042775	NM_001384272.1(HCRTR2):c.28C>T (p.Pro10Ser)	HCRTR2 (P10S)	Single nucleotide variant (missense variant)	HCRTR2-related disorder	GLikely benign
Select item 3043269	NM_001384272.1(HCRTR2):c.30C>T (p.Pro10=)	HCRTR2	Single nucleotide variant (synonymous variant)	HCRTR2-related disorder	GLikely benign
Select item 2520223	NM_001384272.1(HCRTR2):c.41A>G (p.Asn14Ser)	HCRTR2 (N14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508470	NM_001384272.1(HCRTR2):c.158A>G (p.Tyr53Cys)	HCRTR2 (Y53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460288	NM_001384272.1(HCRTR2):c.163T>C (p.Trp55Arg)	HCRTR2 (W55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104542	NM_001384272.1(HCRTR2):c.179G>T (p.Gly60Val)	HCRTR2 (G60V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294357	NM_001384272.1(HCRTR2):c.205C>T (p.Leu69Phe)	HCRTR2 (L69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044525	NM_001384272.1(HCRTR2):c.213G>A (p.Gly71=)	HCRTR2	Single nucleotide variant (synonymous variant)	HCRTR2-related disorder	GLikely benign
Select item 3104543	NM_001384272.1(HCRTR2):c.295G>T (p.Ala99Ser)	HCRTR2 (A99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462695	NM_001384272.1(HCRTR2):c.314T>C (p.Ile105Thr)	HCRTR2 (I105T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037159	NM_001384272.1(HCRTR2):c.444C>T (p.Ile148=)	HCRTR2	Single nucleotide variant (synonymous variant)	HCRTR2-related disorder	GBenign
Select item 2381870	NM_001384272.1(HCRTR2):c.509G>A (p.Arg170His)	HCRTR2 (R170H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219902	NM_001384272.1(HCRTR2):c.547A>G (p.Ile183Val)	HCRTR2 (I183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042350	NM_001384272.1(HCRTR2):c.577T>A (p.Cys193Ser)	HCRTR2 (C193S)	Single nucleotide variant (missense variant)	HCRTR2-related disorder	GLikely benign
Select item 2494801	NM_001384272.1(HCRTR2):c.602C>G (p.Ala201Gly)	HCRTR2 (A201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615866	NM_001384272.1(HCRTR2):c.637C>T (p.Arg213Cys)	HCRTR2 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382978	NM_001384272.1(HCRTR2):c.676T>G (p.Cys226Gly)	HCRTR2 (C226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606614	NM_001384272.1(HCRTR2):c.736A>G (p.Ile246Val)	HCRTR2 (I246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245501	NM_001384272.1(HCRTR2):c.743G>T (p.Arg248Leu)	HCRTR2 (R248L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472597	NM_001384272.1(HCRTR2):c.778T>A (p.Ser260Thr)	HCRTR2 (S260T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332108	NM_001384272.1(HCRTR2):c.827G>A (p.Arg276Gln)	HCRTR2 (R276Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768101	NM_001384272.1(HCRTR2):c.846G>A (p.Thr282=)	HCRTR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3059587	NM_001384272.1(HCRTR2):c.922A>G (p.Ile308Val)	HCRTR2 (I308V)	Single nucleotide variant (missense variant)	HCRTR2-related disorder	GBenign
Select item 2390255	NM_001384272.1(HCRTR2):c.964A>G (p.Ile322Val)	HCRTR2 (I322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378396	NM_001384272.1(HCRTR2):c.1156G>C (p.Val386Leu)	HCRTR2 (V386L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540885	NM_001384272.1(HCRTR2):c.1173G>C (p.Glu391Asp)	HCRTR2 (E391D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728949	NM_001384272.1(HCRTR2):c.1182C>T (p.Leu394=)	HCRTR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2603662	NM_001384272.1(HCRTR2):c.1220T>G (p.Leu407Trp)	HCRTR2 (L407W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611503	NM_001384272.1(HCRTR2):c.1228C>G (p.Gln410Glu)	HCRTR2 (Q410E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104540	NM_001384272.1(HCRTR2):c.1234A>G (p.Ser412Gly)	HCRTR2 (S412G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714952	NM_001384272.1(HCRTR2):c.1292C>A (p.Thr431Lys)	HCRTR2 (T431K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3104541	NM_001384272.1(HCRTR2):c.1307A>G (p.Asn436Ser)	HCRTR2 (N436S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685203	GRCh37/hg19 6p12.3-12.1(chr6:50181657-55538355)x1	CILK1, EFHC1 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808262	GRCh37/hg19 6p12.1(chr6:54926500-55647880)x3	BMP5, GFRAL +2 more	Copy number gain	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 983177	GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1	TFAP2D, TINAG +43 more	Copy number loss	See cases	GLikely pathogenic
Select item 686721	GRCh37/hg19 6p12.1(chr6:55053759-55499082)x1	GFRAL, HCRTR2 +1 more	Copy number loss	not provided	GUncertain significance
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 442770	GRCh37/hg19 6p12.1(chr6:54730810-56217129)x1	BMP5, COL21A1 +4 more	Copy number loss	See cases	GLikely benign
Select item 395618	GRCh37/hg19 6p12.1(chr6:53661282-55147137)x3	LRRC1, MLIP +4 more	Copy number gain	See cases	GUncertain significance

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Items: 46