21072[HGNC] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 3122583	NM_024641.4(MANEA):c.14G>A (p.Arg5Gln)	MANEA (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292866	NM_024641.4(MANEA):c.46A>G (p.Ile16Val)	MANEA (I16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606430	NM_024641.4(MANEA):c.74G>A (p.Gly25Asp)	MANEA (G25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381818	NM_024641.4(MANEA):c.100G>T (p.Ala34Ser)	MANEA (A34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409570	NM_024641.4(MANEA):c.113C>T (p.Ala38Val)	MANEA (A38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122584	NM_024641.4(MANEA):c.202A>G (p.Asn68Asp)	MANEA (N68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228386	NM_024641.4(MANEA):c.229A>C (p.Lys77Gln)	MANEA (K77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462791	NM_024641.4(MANEA):c.233G>C (p.Ser78Thr)	MANEA (S78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315769	NM_024641.4(MANEA):c.244A>C (p.Thr82Pro)	MANEA (T82P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122585	NM_024641.4(MANEA):c.356A>T (p.Lys119Ile)	MANEA (K119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455960	NM_024641.4(MANEA):c.365A>G (p.His122Arg)	MANEA (H122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328571	NM_024641.4(MANEA):c.398C>G (p.Pro133Arg)	MANEA (P133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409263	NM_024641.4(MANEA):c.419C>T (p.Pro140Leu)	MANEA (P140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122586	NM_024641.4(MANEA):c.431A>T (p.His144Leu)	MANEA (H144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122587	NM_024641.4(MANEA):c.432C>G (p.His144Gln)	MANEA (H144Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122588	NM_024641.4(MANEA):c.449T>C (p.Ile150Thr)	MANEA (I150T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122589	NM_024641.4(MANEA):c.455C>T (p.Ser152Phe)	MANEA (S152F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122590	NM_024641.4(MANEA):c.491G>A (p.Arg164Gln)	MANEA (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469865	NM_024641.4(MANEA):c.502G>C (p.Val168Leu)	MANEA (V168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122591	NM_024641.4(MANEA):c.535G>T (p.Ala179Ser)	MANEA (A179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122592	NM_024641.4(MANEA):c.593G>A (p.Gly198Glu)	MANEA (G198E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292867	NM_024641.4(MANEA):c.668T>G (p.Ile223Arg)	MANEA (I223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292869	NM_024641.4(MANEA):c.700A>G (p.Met234Val)	MANEA (M234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331850	NM_024641.4(MANEA):c.701T>C (p.Met234Thr)	MANEA (M234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292865	NM_024641.4(MANEA):c.767C>G (p.Thr256Arg)	MANEA (T256R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400437	NM_024641.4(MANEA):c.767C>T (p.Thr256Met)	MANEA (T256M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461259	NM_024641.4(MANEA):c.784C>T (p.Leu262Phe)	MANEA (L262F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537625	NM_024641.4(MANEA):c.835G>A (p.Ala279Thr)	MANEA (A279T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233077	NM_024641.4(MANEA):c.862C>T (p.Arg288Trp)	MANEA (R288W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234097	NM_024641.4(MANEA):c.875A>G (p.Asn292Ser)	MANEA (N292S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122594	NM_024641.4(MANEA):c.947G>C (p.Gly316Ala)	MANEA (G316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620716	NM_024641.4(MANEA):c.979A>G (p.Asn327Asp)	MANEA (N327D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243459	NM_024641.4(MANEA):c.1029A>T (p.Leu343Phe)	MANEA (L343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292868	NM_024641.4(MANEA):c.1234G>C (p.Glu412Gln)	MANEA (E412Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532389	NM_024641.4(MANEA):c.1264A>G (p.Thr422Ala)	MANEA (T422A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238367	NM_024641.4(MANEA):c.1267G>C (p.Val423Leu)	MANEA (V423L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122582	NM_024641.4(MANEA):c.1309G>C (p.Glu437Gln)	MANEA (E437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	ASCC3, CCNC +20 more	Copy number gain	not specified	GUncertain significance
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527267	GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)	ASCC3, CCNC +20 more	Copy number loss	not specified	GPathogenic
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 974789	GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1	MANEA, UFL1 +3 more	Copy number loss	Microcephaly +1 more	GLikely pathogenic
Select item 814849	GRCh37/hg19 6q16.1(chr6:95956613-96263611)x1	MANEA	Copy number loss	not provided	GUncertain significance
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 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 443296	GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1	ZBTB24, AFG1L +49 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 53